SwePub - search: WFRF:(Clayton Smith J)

Enumeration	Reference	Cover	Find
1.	Kanai, M, et al. (author) 2023 swepub:Mat__t
2.	2021 swepub:Mat__t
3.	Niemi, MEK, et al. (author) 2021 swepub:Mat__t
4.	Schael, S, et al. (author) Precision electroweak measurements on the Z resonance 2006 In: Physics Reports. - : Elsevier BV. - 0370-1573 .- 1873-6270. ; 427:5-6, s. 257-454 Research review (peer-reviewed)abstract We report on the final electroweak measurements performed with data taken at the Z resonance by the experiments operating at the electron-positron colliders SLC and LEP. The data consist of 17 million Z decays accumulated by the ALEPH, DELPHI, L3 and OPAL experiments at LEP, and 600 thousand Z decays by the SLID experiment using a polarised beam at SLC. The measurements include cross-sections, forward-backward asymmetries and polarised asymmetries. The mass and width of the Z boson, m(Z) and Gamma(Z), and its couplings to fermions, for example the p parameter and the effective electroweak mixing angle for leptons, are precisely measured: m(Z) = 91.1875 +/- 0.0021 GeV, Gamma(Z) = 2.4952 +/- 0.0023 GeV, rho(l) = 1.0050 +/- 0.0010, sin(2)theta(eff)(lept) = 0.23153 +/- 0.00016. The number of light neutrino species is determined to be 2.9840 +/- 0.0082, in agreement with the three observed generations of fundamental fermions. The results are compared to the predictions of the Standard Model (SM). At the Z-pole, electroweak radiative corrections beyond the running of the QED and QCD coupling constants are observed with a significance of five standard deviations, and in agreement with the Standard Model. Of the many Z-pole measurements, the forward-backward asymmetry in b-quark production shows the largest difference with respect to its SM expectation, at the level of 2.8 standard deviations. Through radiative corrections evaluated in the framework of the Standard Model, the Z-pole data are also used to predict the mass of the top quark, m(t) = 173(+10)(+13) GeV, and the mass of the W boson, m(W) = 80.363 +/- 0.032 GeV. These indirect constraints are compared to the direct measurements, providing a stringent test of the SM. Using in addition the direct measurements of m(t) and m(W), the mass of the as yet unobserved SM Higgs boson is predicted with a relative uncertainty of about 50% and found to be less than 285 GeV at 95% confidence level. (c) 2006 Elsevier B.V. All rights reserved.
5.	Adrian-Martinez, S., et al. (author) A first search for coincident gravitational waves and high energy neutrinos using LIGO, Virgo and ANTARES data from 2007 2013 In: Journal of Cosmology and Astroparticle Physics. - : IOP Publishing. - 1475-7516. ; :6 Journal article (peer-reviewed)abstract We present the results of the first search for gravitational wave bursts associated with high energy neutrinos. Together, these messengers could reveal new, hidden sources that are not observed by conventional photon astronomy, particularly at high energy. Our search uses neutrinos detected by the underwater neutrino telescope ANTARES in its 5 line configuration during the period January - September 2007, which coincided with the fifth and first science runs of LIGO and Virgo, respectively. The LIGO-Virgo data were analysed for candidate gravitational-wave signals coincident in time and direction with the neutrino events. No significant coincident events were observed. We place limits on the density of joint high energy neutrino - gravitational wave emission events in the local universe, and compare them with densities of merger and core-collapse events.
6.	Evans, P. A., et al. (author) Swift Follow-up Observations of Candidate Gravitational-wave Transient Events 2012 In: The Astrophysical Journal Supplement Series. - : American Astronomical Society. - 0067-0049 .- 1538-4365. ; 203:2 Journal article (peer-reviewed)abstract We present the first multi-wavelength follow-up observations of two candidate gravitational-wave (GW) transient events recorded by LIGO and Virgo in their 2009-2010 science run. The events were selected with low latency by the network of GW detectors (within less than 10 minutes) and their candidate sky locations were observed by the Swift observatory (within 12 hr). Image transient detection was used to analyze the collected electromagnetic data, which were found to be consistent with background. Off-line analysis of the GW data alone has also established that the selected GW events show no evidence of an astrophysical origin; one of them is consistent with background and the other one was a test, part of a "blind injection challenge." With this work we demonstrate the feasibility of rapid follow-ups of GW transients and establish the sensitivity improvement joint electromagnetic and GW observations could bring. This is a first step toward an electromagnetic follow-up program in the regime of routine detections with the advanced GW instruments expected within this decade. In that regime, multi-wavelength observations will play a significant role in completing the astrophysical identification of GW sources. We present the methods and results from this first combined analysis and discuss its implications in terms of sensitivity for the present and future instruments.
7.	Abadie, J., et al. (author) Implementation and testing of the first prompt search for gravitational wave transients with electromagnetic counterparts 2012 In: Astronomy & Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 539 Journal article (peer-reviewed)abstract Aims. A transient astrophysical event observed in both gravitational wave (GW) and electromagnetic (EM) channels would yield rich scientific rewards. A first program initiating EM follow-ups to possible transient GW events has been developed and exercised by the LIGO and Virgo community in association with several partners. In this paper, we describe and evaluate the methods used to promptly identify and localize GW event candidates and to request images of targeted sky locations. Methods. During two observing periods (Dec. 17, 2009 to Jan. 8, 2010 and Sep. 2 to Oct. 20, 2010), a low-latency analysis pipeline was used to identify GW event candidates and to reconstruct maps of possible sky locations. A catalog of nearby galaxies and Milky Way globular clusters was used to select the most promising sky positions to be imaged, and this directional information was delivered to EM observatories with time lags of about thirty minutes. A Monte Carlo simulation has been used to evaluate the low-latency GW pipeline's ability to reconstruct source positions correctly. Results. For signals near the detection threshold, our low-latency algorithms often localized simulated GW burst signals to tens of square degrees, while neutron star/neutron star inspirals and neutron star/black hole inspirals were localized to a few hundred square degrees. Localization precision improves for moderately stronger signals. The correct sky location of signals well above threshold and originating from nearby galaxies may be observed with similar to 50% or better probability with a few pointings of wide-field telescopes.
8.	Abadie, J., et al. (author) Search for Gravitational Waves Associated with Gamma-Ray Bursts during LIGO Science Run 6 and Virgo Science Runs 2 and 3 2012 In: Astrophysical Journal. - 0004-637X. ; 760:1 Journal article (peer-reviewed)abstract We present the results of a search for gravitational waves associated with 154 gamma-ray bursts (GRBs) that were detected by satellite-based gamma-ray experiments in 2009-2010, during the sixth LIGO science run and the second and third Virgo science runs. We perform two distinct searches: a modeled search for coalescences of either two neutron stars or a neutron star and black hole, and a search for generic, unmodeled gravitational-wave bursts. We find no evidence for gravitational-wave counterparts, either with any individual GRB in this sample or with the population as a whole. For all GRBs we place lower bounds on the distance to the progenitor, under the optimistic assumption of a gravitational-wave emission energy of 10(-2) M-circle dot c(2) at 150 Hz, with a median limit of 17 Mpc. For short-hard GRBs we place exclusion distances on binary neutron star and neutron-star-black-hole progenitors, using astrophysically motivated priors on the source parameters, with median values of 16 Mpc and 28 Mpc, respectively. These distance limits, while significantly larger than for a search that is not aided by GRB satellite observations, are not large enough to expect a coincidence with a GRB. However, projecting these exclusions to the sensitivities of Advanced LIGO and Virgo, which should begin operation in 2015, we find that the detection of gravitational waves associated with GRBs will become quite possible.
9.	Abadie, J., et al. (author) All-sky search for gravitational-wave bursts in the second joint LIGO-Virgo run 2012 In: Physical Review D (Particles, Fields, Gravitation and Cosmology). - 1550-2368. ; 85:12 Journal article (peer-reviewed)abstract We present results from a search for gravitational-wave bursts in the data collected by the LIGO and Virgo detectors between July 7, 2009 and October 20, 2010: data are analyzed when at least two of the three LIGO-Virgo detectors are in coincident operation, with a total observation time of 207 days. The analysis searches for transients of duration less than or similar to 1 s over the frequency band 64-5000 Hz, without other assumptions on the signal waveform, polarization, direction or occurrence time. All identified events are consistent with the expected accidental background. We set frequentist upper limits on the rate of gravitational-wave bursts by combining this search with the previous LIGO-Virgo search on the data collected between November 2005 and October 2007. The upper limit on the rate of strong gravitational-wave bursts at the Earth is 1.3 events per year at 90% confidence. We also present upper limits on source rate density per year and Mpc(3) for sample populations of standard-candle sources. As in the previous joint run, typical sensitivities of the search in terms of the root-sum-squared strain amplitude for these waveforms lie in the range similar to 5 x 10(-22) Hz(-1/2) to similar to 1 x 10(-20) Hz(-1/2). The combination of the two joint runs entails the most sensitive all-sky search for generic gravitational-wave bursts and synthesizes the results achieved by the initial generation of interferometric detectors.
10.	Abadie, J., et al. (author) First low-latency LIGO plus Virgo search for binary inspirals and their electromagnetic counterparts 2012 In: Astronomy & Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 541 Journal article (peer-reviewed)abstract Aims. The detection and measurement of gravitational-waves from coalescing neutron-star binary systems is an important science goal for ground-based gravitational-wave detectors. In addition to emitting gravitational-waves at frequencies that span the most sensitive bands of the LIGO and Virgo detectors, these sources are also amongst the most likely to produce an electromagnetic counterpart to the gravitational-wave emission. A joint detection of the gravitational-wave and electromagnetic signals would provide a powerful new probe for astronomy. Methods. During the period between September 19 and October 20, 2010, the first low-latency search for gravitational-waves from binary inspirals in LIGO and Virgo data was conducted. The resulting triggers were sent to electromagnetic observatories for followup. We describe the generation and processing of the low-latency gravitational-wave triggers. The results of the electromagnetic image analysis will be described elsewhere. Results. Over the course of the science run, three gravitational-wave triggers passed all of the low-latency selection cuts. Of these, one was followed up by several of our observational partners. Analysis of the gravitational-wave data leads to an estimated false alarm rate of once every 6.4 days, falling far short of the requirement for a detection based solely on gravitational-wave data.
11.	Abadie, J., et al. (author) Search for gravitational waves from intermediate mass binary black holes 2012 In: Physical Review D (Particles, Fields, Gravitation and Cosmology). - 1550-2368. ; 85:10 Journal article (peer-reviewed)abstract We present the results of a weakly modeled burst search for gravitational waves from mergers of nonspinning intermediate mass black holes in the total mass range 100-450 M-circle dot and with the component mass ratios between 1: and 4:1. The search was conducted on data collected by the LIGO and Virgo detectors between November of 2005 and October of 2007. No plausible signals were observed by the search which constrains the astrophysical rates of the intermediate mass black holes mergers as a function of the component masses. In the most efficiently detected bin centered on 88 + 88 M-circle dot, for nonspinning sources, the rate density upper limit is 0.13 per Mpc(3) per Myr at the 90% confidence level.
12.	Abadie, J., et al. (author) Upper limits on a stochastic gravitational-wave background using LIGO and Virgo interferometers at 600-1000 Hz 2012 In: Physical Review D (Particles, Fields, Gravitation and Cosmology). - 1550-2368. ; 85:12 Journal article (peer-reviewed)abstract A stochastic background of gravitational waves is expected to arise from a superposition of many incoherent sources of gravitational waves, of either cosmological or astrophysical origin. This background is a target for the current generation of ground-based detectors. In this article we present the first joint search for a stochastic background using data from the LIGO and Virgo interferometers. In a frequency band of 600-1000 Hz, we obtained a 95% upper limit on the amplitude of Omega(GW)(f) = Omega(3)(f/900 Hz)(3), of Omega(3) < 0.32, assuming a value of the Hubble parameter of h(100) = 0.71. These new limits are a factor of seven better than the previous best in this frequency band.
13.	Aasi, J., et al. (author) Parameter estimation for compact binary coalescence signals with the first generation gravitational-wave detector network 2013 In: Physical Review D (Particles, Fields, Gravitation and Cosmology). - 1550-2368. ; 88:6 Journal article (peer-reviewed)abstract Compact binary systems with neutron stars or black holes are one of the most promising sources for ground-based gravitational-wave detectors. Gravitational radiation encodes rich information about source physics; thus parameter estimation and model selection are crucial analysis steps for any detection candidate events. Detailed models of the anticipated waveforms enable inference on several parameters, such as component masses, spins, sky location and distance, that are essential for new astrophysical studies of these sources. However, accurate measurements of these parameters and discrimination of models describing the underlying physics are complicated by artifacts in the data, uncertainties in the waveform models and in the calibration of the detectors. Here we report such measurements on a selection of simulated signals added either in hardware or software to the data collected by the two LIGO instruments and the Virgo detector during their most recent joint science run, including a "blind injection'' where the signal was not initially revealed to the collaboration. We exemplify the ability to extract information about the source physics on signals that cover the neutron-star and black-hole binary parameter space over the component mass range 1M(circle dot)-25M(circle dot) and the full range of spin parameters. The cases reported in this study provide a snapshot of the status of parameter estimation in preparation for the operation of advanced detectors.
14.	Aasi, J., et al. (author) The characterization of Virgo data and its impact on gravitational-wave searches 2012 In: Classical and Quantum Gravity. - : IOP Publishing. - 1361-6382 .- 0264-9381. ; 29:15 Journal article (peer-reviewed)abstract Between 2007 and 2010 Virgo collected data in coincidence with the LIGO and GEO gravitational-wave (GW) detectors. These data have been searched for GWs emitted by cataclysmic phenomena in the universe, by non-axisymmetric rotating neutron stars or from a stochastic background in the frequency band of the detectors. The sensitivity of GW searches is limited by noise produced by the detector or its environment. It is therefore crucial to characterize the various noise sources in a GW detector. This paper reviews the Virgo detector noise sources, noise propagation, and conversion mechanisms which were identified in the three first Virgo observing runs. In many cases, these investigations allowed us to mitigate noise sources in the detector, or to selectively flag noise events and discard them from the data. We present examples from the joint LIGO-GEO-Virgo GW searches to show how well noise transients and narrow spectral lines have been identified and excluded from the Virgo data. We also discuss how detector characterization can improve the astrophysical reach of GW searches.
15.	Aasi, J., et al. (author) Search for gravitational waves from binary black hole inspiral, merger, and ringdown in LIGO-Virgo data from 2009-2010 2013 In: Physical Review D (Particles, Fields, Gravitation and Cosmology). - 1550-2368. ; 87:2 Journal article (peer-reviewed)abstract We report a search for gravitational waves from the inspiral, merger and ringdown of binary black holes (BBH) with total mass between 25 and 100 solar masses, in data taken at the LIGO and Virgo observatories between July 7, 2009 and October 20, 2010. The maximum sensitive distance of the detectors over this period for a (20, 20)M-circle dot coalescence was 300 Mpc. No gravitational wave signals were found. We thus report upper limits on the astrophysical coalescence rates of BBH as a function of the component masses for nonspinning components, and also evaluate the dependence of the search sensitivity on component spins aligned with the orbital angular momentum. We find an upper limit at 90% confidence on the coalescence rate of BBH with nonspinning components of mass between 19 and 28M(circle dot) of 3:3 x 10(-7) mergers Mpc(-3) yr(-1).
16.	Aasi, J., et al. (author) Einstein@Home all-sky search for periodic gravitational waves in LIGO S5 data 2013 In: Physical Review D (Particles, Fields, Gravitation and Cosmology). - 1550-2368. ; 87:4 Journal article (peer-reviewed)abstract This paper presents results of an all-sky search for periodic gravitational waves in the frequency range [50, 1190] Hz and with frequency derivative range of similar to[-20, 1.1] x 10(-10) Hz s(-1) for the fifth LIGO science run (S5). The search uses a noncoherent Hough-transform method to combine the information from coherent searches on time scales of about one day. Because these searches are very computationally intensive, they have been carried out with the Einstein@Home volunteer distributed computing project. Postprocessing identifies eight candidate signals; deeper follow-up studies rule them out. Hence, since no gravitational wave signals have been found, we report upper limits on the intrinsic gravitational wave strain amplitude h(0). For example, in the 0.5 Hz-wide band at 152.5 Hz, we can exclude the presence of signals with h(0) greater than 7.6 x 10(-25) at a 90% confidence level. This search is about a factor 3 more sensitive than the previous Einstein@Home search of early S5 LIGO data.
17.	Abadie, J., et al. (author) All-sky search for periodic gravitational waves in the full S5 LIGO data 2012 In: Physical Review D (Particles, Fields, Gravitation and Cosmology). - 1550-2368. ; 85:2 Journal article (peer-reviewed)abstract We report on an all-sky search for periodic gravitational waves in the frequency band 50-800 Hz and with the frequency time derivative in the range of 0 through -6 x 10(-9) Hz/s. Such a signal could be produced by a nearby spinning and slightly nonaxisymmetric isolated neutron star in our Galaxy. After recent improvements in the search program that yielded a 10x increase in computational efficiency, we have searched in two years of data collected during LIGO's fifth science run and have obtained the most sensitive all-sky upper limits on gravitational-wave strain to date. Near 150 Hz our upper limit on worst-case linearly polarized strain amplitude h(0) is 1 x 10(-24), while at the high end of our frequency range we achieve a worst-case upper limit of 3.8 x 10(-24) for all polarizations and sky locations. These results constitute a factor of 2 improvement upon previously published data. A new detection pipeline utilizing a loosely coherent algorithm was able to follow up weaker outliers, increasing the volume of space where signals can be detected by a factor of 10, but has not revealed any gravitational-wave signals. The pipeline has been tested for robustness with respect to deviations from the model of an isolated neutron star, such as caused by a low-mass or long-period binary companion.
18.	Abadie, J., et al. (author) Search for gravitational waves from low mass compact binary coalescence in LIGO's sixth science run and Virgo's science runs 2 and 3 2012 In: Physical Review D (Particles, Fields, Gravitation and Cosmology). - 1550-2368. ; 85:8 Journal article (peer-reviewed)abstract We report on a search for gravitational waves from coalescing compact binaries using LIGO and Virgo observations between July 7, 2009, and October 20, 2010. We searched for signals from binaries with total mass between 2 and 25M(circle dot); this includes binary neutron stars, binary black holes, and binaries consisting of a black hole and neutron star. The detectors were sensitive to systems up to 40 Mpc distant for binary neutron stars, and further for higher mass systems. No gravitational-wave signals were detected. We report upper limits on the rate of compact binary coalescence as a function of total mass, including the results from previous LIGO and Virgo observations. The cumulative 90% confidence rate upper limits of the binary coalescence of binary neutron star, neutron star-black hole, and binary black hole systems are 1.3 x 10(-4), 3.1 x 10(-5), and 6.4 x 10(-6) Mpc(-3) yr(-1), respectively. These upper limits are up to a factor 1.4 lower than previously derived limits. We also report on results from a blind injection challenge.
19.	Orth, M, et al. (author) Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY 2011 In: Journal of neurology, neurosurgery, and psychiatry. - : BMJ. - 1468-330X .- 0022-3050. ; 82:12, s. 1409- Journal article (other academic/artistic)
20.	O'Donnell-Luria, AH, et al. (author) Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy 2019 In: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 104:6, s. 1210-1222 Journal article (peer-reviewed)
21.	Elsik, Christine G., et al. (author) The Genome Sequence of Taurine Cattle : A Window to Ruminant Biology and Evolution 2009 In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 324:5926, s. 522-528 Journal article (peer-reviewed)abstract To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of 22,000 genes, with a core set of 14,345 orthologs shared among seven mammalian species of which 1217 are absent or undetected in noneutherian (marsupial or monotreme) genomes. Cattle-specific evolutionary breakpoint regions in chromosomes have a higher density of segmental duplications, enrichment of repetitive elements, and species-specific variations in genes associated with lactation and immune responsiveness. Genes involved in metabolism are generally highly conserved, although five metabolic genes are deleted or extensively diverged from their human orthologs. The cattle genome sequence thus provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production.
22.	Thery, C, et al. (author) Minimal information for studies of extracellular vesicles 2018 (MISEV2018): a position statement of the International Society for Extracellular Vesicles and update of the MISEV2014 guidelines 2018 In: Journal of extracellular vesicles. - : Wiley. - 2001-3078. ; 7:1, s. 1535750- Journal article (peer-reviewed)
23.	Leebens-Mack, James H., et al. (author) One thousand plant transcriptomes and the phylogenomics of green plants 2019 In: Nature. - : Nature Publishing Group. - 0028-0836 .- 1476-4687. ; 574:7780, s. 679- Journal article (peer-reviewed)abstract Green plants (Viridiplantae) include around 450,000-500,000 species(1,2) of great diversity and have important roles in terrestrial and aquatic ecosystems. Here, as part of the One Thousand Plant Transcriptomes Initiative, we sequenced the vegetative transcriptomes of 1,124 species that span the diversity of plants in a broad sense (Archaeplastida), including green plants (Viridiplantae), glaucophytes (Glaucophyta) and red algae (Rhodophyta). Our analysis provides a robust phylogenomic framework for examining the evolution of green plants. Most inferred species relationships are well supported across multiple species tree and supermatrix analyses, but discordance among plastid and nuclear gene trees at a few important nodes highlights the complexity of plant genome evolution, including polyploidy, periods of rapid speciation, and extinction. Incomplete sorting of ancestral variation, polyploidization and massive expansions of gene families punctuate the evolutionary history of green plants. Notably, we find that large expansions of gene families preceded the origins of green plants, land plants and vascular plants, whereas whole-genome duplications are inferred to have occurred repeatedly throughout the evolution of flowering plants and ferns. The increasing availability of high-quality plant genome sequences and advances in functional genomics are enabling research on genome evolution across the green tree of life.
24.	Cook, D. O., et al. (author) Star cluster catalogues for the LEGUS dwarf galaxies 2019 In: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 484:4, s. 4897-4919 Journal article (peer-reviewed)abstract We present the star cluster catalogues for 17 dwarf and irregular galaxies in the HST Treasury Program 'Legacy ExtraGalactic UV Survey' (LEGUS). Cluster identification and photometry in this sub-sample are similar to that of the entire LEGUS sample, but special methods were developed to provide robust catalogues with accurate fluxes due to low cluster statistics. The colours and ages are largely consistent for two widely used aperture corrections, but a significant fraction of the clusters are more compact than the average training cluster. However, the ensemble luminosity, mass, and age distributions are consistent suggesting that the systematics between the two methods are less than the random errors. When compared with the clusters from previous dwarf galaxy samples, we find that the LEGUS catalogues are more complete and provide more accurate total fluxes. Combining all clusters into a composite dwarf galaxy, we find that the luminosity and mass functions can be described by a power law with the canonical index of -2 independent of age and global SFR binning. The age distribution declines as a power law, with an index of approximate to -0.80 +/- 0.15, independent of cluster mass and global SFR binning. This decline of clusters is dominated by cluster disruption since the combined star formation histories and integrated-light SFRs are both approximately constant over the last few hundred Myr. Finally, we find little evidence for an upper-mass cut-off (< 2 sigma) in the composite cluster mass function, and can rule out a truncation mass below approximate to 10(4.5)M(circle dot) but cannot rule out the existence of a truncation at higher masses.
25.	Gannon, T, et al. (author) Further delineation of the KAT6B molecular and phenotypic spectrum 2015 In: European journal of human genetics : EJHG. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 23:9, s. 1165-1170 Journal article (peer-reviewed)
26.	Meixner, Margaret, et al. (author) Herschel and ALMA measurements of dust and molecules in supernova 1987A 2013 In: Proceedings of Science. - 1824-8039. ; Part F113823 Conference paper (peer-reviewed)abstract Dust production by supernovae is important in the dust life cycle of a galaxy. The explosion of SN 1987A was the nearest SN detected in the last 400 years, allowing us detailed studies of contemporary evolution of a supernova for the first time. In 2011, Matsuura et al. reported 0.4-0.7 M of dust in SN 1987A based on Herschel HERITAGE survey data, which is surprisingly large compared to prior measurements of supernovae. In this paper, we present our follow-up studies of this important discovery about SN 1987A using the Herschel Space Observatory and the Atacama Large Millimeter Array (ALMA). We highlight two important results, the detection of cold molecular gas and dust in the ejected material of SN 1987A. Our results suggest that SNe are significant producers of dust and molecules, as well as heavy elements, driving chemical evolution of galaxies.
27.	Van Dijck, A, et al. (author) Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP 2019 In: Biological psychiatry. - : Elsevier BV. - 1873-2402 .- 0006-3223. ; 85:4, s. 287-297 Journal article (peer-reviewed)
28.	Lionel, AC, et al. (author) Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes 2014 In: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 23:10, s. 2752-2768 Journal article (peer-reviewed)
29.	Adamo, Angela, et al. (author) Legacy ExtraGalactic UV Survey with The Hubble Space Telescope : Stellar Cluster Catalogs and First Insights Into Cluster Formation and Evolution in NGC 628 2017 In: Astrophysical Journal. - : IOP PUBLISHING LTD. - 0004-637X .- 1538-4357. ; 841:2 Journal article (peer-reviewed)abstract We report the large effort that is producing comprehensive high-level young star cluster (YSC) catalogs for a significant fraction of galaxies observed with the Legacy ExtraGalactic UV Survey (LEGUS) Hubble treasury program. We present the methodology developed to extract cluster positions, verify their genuine nature, produce multiband photometry (from NUV to NIR), and derive their physical properties via spectral energy distribution fitting analyses. We use the nearby spiral galaxy NGC 628 as a test case for demonstrating the impact that LEGUS will have on our understanding of the formation and evolution of YSCs and compact stellar associations within their host galaxy. Our analysis of the cluster luminosity function from the UV to the NIR finds a steepening at the bright end and at all wavelengths suggesting a dearth of luminous clusters. The cluster mass function of NGC 628 is consistent with a power-law distribution of slopes similar to-2 and a truncation of a few times 10(5) M-circle dot. After their formation, YSCs and compact associations follow different evolutionary paths. YSCs survive for a longer time frame, confirming their being potentially bound systems. Associations disappear on timescales comparable to hierarchically organized star-forming regions, suggesting that they are expanding systems. We find massindependent cluster disruption in the inner region of NGC 628, while in the outer part of the galaxy there is little or no disruption. We observe faster disruption rates for low mass (<= 10(4) M-circle dot) clusters, suggesting that a massdependent component is necessary to fully describe the YSC disruption process in NGC 628.
30.	Calzetti, D., et al. (author) LEGACY EXTRAGALACTIC UV SURVEY (LEGUS) WITH THE HUBBLE SPACE TELESCOPE. I. SURVEY DESCRIPTION 2015 In: Astronomical Journal. - : American Astronomical Society. - 0004-6256 .- 1538-3881. ; 149:2 Journal article (peer-reviewed)abstract The Legacy ExtraGalactic UV Survey (LEGUS) is a Cycle 21 Treasury program on the Hubble Space Telescope aimed at the investigation of star formation and its relation with galactic environment in nearby galaxies, from the scales of individual stars to those of similar to kiloparsec-size clustered structures. Five-band imaging from the nearultraviolet to the I band with the Wide-Field Camera 3 (WFC3), plus parallel optical imaging with the Advanced Camera for Surveys (ACS), is being collected for selected pointings of 50 galaxies within the local 12 Mpc. The filters used for the observations with the WFC3 are F275W(lambda 2704 angstrom), F336W(lambda 3355 angstrom), F438W(lambda 4325 angstrom), F555W(lambda 5308 angstrom), and F814W(lambda 8024 angstrom); the parallel observations with the ACS use the filters F435W (lambda 4328 angstrom), F606W(lambda 5921 angstrom), and F814W(lambda 8057 angstrom). The multiband images are yielding accurate recent (less than or similar to 50 Myr) star formation histories from resolved massive stars and the extinction-corrected ages and masses of star clusters and associations. The extensive inventories of massive stars and clustered systems will be used to investigate the spatial and temporal evolution of star formation within galaxies. This will, in turn, inform theories of galaxy evolution and improve the understanding of the physical underpinning of the gas-star formation relation and the nature of star formation at high redshift. This paper describes the survey, its goals and observational strategy, and the initial scientific results. Because LEGUS will provide a reference survey and a foundation for future observations with the James Webb Space Telescope and with ALMA, a large number of data products are planned for delivery to the community.
31.	Sabbi, E., et al. (author) The Resolved Stellar Populations in the LEGUS Galaxies 2018 In: Astrophysical Journal Supplement Series. - : American Astronomical Society. - 0067-0049 .- 1538-4365. ; 235:1 Journal article (peer-reviewed)abstract The Legacy ExtraGalactic UV Survey (LEGUS) is a multiwavelength Cycle 21 Treasury program on the Hubble Space Telescope. It studied 50 nearby star-forming galaxies in 5 bands from the near-UV to the I-band, combining new Wide Field Camera 3 observations with archival Advanced Camera for Surveys data. LEGUS was designed to investigate how star formation occurs and develops on both small and large scales, and how it relates to the galactic environments. In this paper we present the photometric catalogs for all the apparently single stars identified in the 50 LEGUS galaxies. Photometric catalogs and mosaicked images for all filters are available for download. We present optical and near-UV color-magnitude diagrams for all the galaxies. For each galaxy we derived the distance from the tip of the red giant branch. We then used the NUV color-magnitude diagrams to identify stars more massive than 14 Me, and compared their number with the number of massive stars expected from the GALEX FUV luminosity. Our analysis shows that the fraction of massive stars forming in star clusters and stellar associations is about constant with the star formation rate. This lack of a relation suggests that the timescale for evaporation of unbound structures is comparable or longer than 10 Myr. At low star formation rates this translates to an excess of mass in clustered environments as compared to model predictions of cluster evolution, suggesting that a significant fraction of stars form in unbound systems.
32.	Calzetti, D., et al. (author) THE BRIGHTEST YOUNG STAR CLUSTERS IN NGC 5253 2015 In: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 811:2 Journal article (peer-reviewed)abstract The nearby dwarf starburst galaxy NGC 5253 hosts a number of young, massive star clusters, the two youngest of which are centrally concentrated and surrounded by thermal radio emission (the radio nebula). To investigate the role of these clusters in the starburst energetics, we combine new and archival Hubble Space Telescope images of NGC 5253 with wavelength coverage from 1500 angstrom 1.9 mu m in 13 filters. These include H alpha, P beta, and P alpha, and the imaging from the Hubble Treasury Program LEGUS (Legacy Extragalactic UV Survey). The extraordinarily well-sampled spectral energy distributions enable modeling with unprecedented accuracy the ages, masses, and extinctions of the nine optically brightest clusters (M-V < -8.8) and the two young radio nebula clusters. The clusters have ages similar to 1-15 Myr and masses similar to 1 x 10(4)-2.5 x 10(5) M-circle dot. The clusters' spatial location and ages indicate that star formation has become more concentrated toward the radio nebula over the last similar to 15 Myr. The most massive cluster is in the radio nebula; with a mass similar to 2.5 x 10(5) M-circle dot and an age similar to 1 Myr, it is 2-4 times less massive and younger than previously estimated. It is within a dust cloud with AV similar to 50 mag, and shows a clear near-IR excess, likely from hot dust. The second radio nebula cluster is also similar to 1 Myr old, confirming the extreme youth of the starburst region. These two clusters account for about half of the ionizing photon rate in the radio nebula, and will eventually supply about 2/3 of the mechanical energy in present-day shocks. Additional sources are required to supply the remaining ionizing radiation, and may include very massive stars.
33.	Matsuura, M., et al. (author) A STUBBORNLY LARGE MASS OF COLD DUST IN THE EJECTA OF SUPERNOVA 1987A 2015 In: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 800:1 Journal article (peer-reviewed)abstract We present new Herschel photometric and spectroscopic observations of Supernova 1987A, carried out in 2012. Our dedicated photometric measurements provide new 70 mu m data and improved imaging quality at 100 and 160 mu m compared to previous observations in 2010. Our Herschel spectra show only weak CO line emission, and provide an upper limit for the 63 mu m [O-I] line flux, eliminating the possibility that line contaminations distort the previously estimated dustmass. The far-infrared spectral energy distribution (SED) is well fitted by thermal emission from cold dust. The newly measured 70 mu m flux constrains the dust temperature, limiting it to nearly a single temperature. The far-infrared emission can be fitted by 0.5 +/- 0.1M(circle dot) of amorphous carbon, about a factor of two larger than the current nucleosynthetic mass prediction for carbon. The observation of SiO molecules at early and late phases suggests that silicates may also have formed and we could fit the SED with a combination of 0.3M(circle dot) of amorphous carbon and 0.5M(circle dot) of silicates, totalling 0.8M(circle dot) of dust. Our analysis thus supports the presence of a large dust reservoir in the ejecta of SN 1987A. The inferred dust mass suggests that supernovae can be an important source of dust in the interstellar medium, from local to high-redshift galaxies.
34.	Ueda, H, et al. (author) Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease 2003 In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 423:6939, s. 506-511 Journal article (peer-reviewed)
35.	Bengani, H, et al. (author) Clinical and molecular consequences of disease-associated de novo mutations in SATB2 2017 In: Genetics in medicine : official journal of the American College of Medical Genetics. - : Elsevier BV. - 1530-0366. ; 19:8, s. 900-908 Journal article (peer-reviewed)
36.	Indebetouw, R., et al. (author) DUST PRODUCTION AND PARTICLE ACCELERATION IN SUPERNOVA 1987A REVEALED WITH ALMA 2014 In: The Astrophysical Journal Letters. - : Institute of Physics (IOP). - 2041-8205. ; 782:1, s. L2- Journal article (peer-reviewed)abstract Supernova (SN) explosions are crucial engines driving the evolution of galaxies by shock heating gas, increasing the metallicity, creating dust, and accelerating energetic particles. In 2012 we used the Atacama Large Millimeter/Submillimeter Array to observe SN 1987A, one of the best-observed supernovae since the invention of the telescope. We present spatially resolved images at 450 mu m, 870 mu m, 1.4 mm, and 2.8 mm, an important transition wavelength range. Longer wavelength emission is dominated by synchrotron radiation from shock-accelerated particles, shorter wavelengths by emission from the largest mass of dust measured in a supernova remnant (>0.2 M-circle dot). For the first time we show unambiguously that this dust has formed in the inner ejecta (the cold remnants of the exploded star's core). The dust emission is concentrated at the center of the remnant, so the dust has not yet been affected by the shocks. If a significant fraction survives, and if SN 1987A is typical, supernovae are important cosmological dust producers.
37.	Indebetouw, R., et al. (author) DUST PRODUCTION AND PARTICLE ACCELERATION IN SUPERNOVA 1987A REVEALED WITH ALMA 2014 In: Astrophysical Journal Letters. - : American Astronomical Society. - 2041-8213 .- 2041-8205. ; 782:1, s. 6- Journal article (peer-reviewed)abstract Supernova (SN) explosions are crucial engines driving the evolution of galaxies by shock heating gas, increasing the metallicity, creating dust, and accelerating energetic particles. In 2012 we used the Atacama Large Millimeter/Submillimeter Array to observe SN 1987A, one of the best-observed supernovae since the invention of the telescope. We present spatially resolved images at 450 mu m, 870 mu m, 1.4 mm, and 2.8 mm, an important transition wavelength range. Longer wavelength emission is dominated by synchrotron radiation from shock-accelerated particles, shorter wavelengths by emission from the largest mass of dust measured in a supernova remnant (>0.2 M-circle dot). For the first time we show unambiguously that this dust has formed in the inner ejecta (the cold remnants of the exploded star's core). The dust emission is concentrated at the center of the remnant, so the dust has not yet been affected by the shocks. If a significant fraction survives, and if SN 1987A is typical, supernovae are important cosmological dust producers.
38.	Milisavljevic, Dan, et al. (author) A JWST Survey of the Supernova Remnant Cassiopeia A 2024 In: Astrophysical Journal Letters. - 2041-8205 .- 2041-8213. ; 965:2 Journal article (peer-reviewed)abstract We present initial results from a James Webb Space Telescope (JWST) survey of the youngest Galactic core-collapse supernova remnant, Cassiopeia A (Cas A), made up of NIRCam and MIRI imaging mosaics that map emission from the main shell, interior, and surrounding circumstellar/interstellar material (CSM/ISM). We also present four exploratory positions of MIRI Medium Resolution Spectrograph integral field unit spectroscopy that sample ejecta, CSM, and associated dust from representative shocked and unshocked regions. Surprising discoveries include (1) a weblike network of unshocked ejecta filaments resolved to ∼0.01 pc scales exhibiting an overall morphology consistent with turbulent mixing of cool, low-entropy matter from the progenitor's oxygen layer with hot, high-entropy matter heated by neutrino interactions and radioactivity; (2) a thick sheet of dust-dominated emission from shocked CSM seen in projection toward the remnant's interior pockmarked with small (∼1'') round holes formed by ≲01 knots of high-velocity ejecta that have pierced through the CSM and driven expanding tangential shocks; and (3) dozens of light echoes with angular sizes between ∼01 and 1' reflecting previously unseen fine-scale structure in the ISM. NIRCam observations place new upper limits on infrared emission (≲20 nJy at 3 μm) from the neutron star in Cas A's center and tightly constrain scenarios involving a possible fallback disk. These JWST survey data and initial findings help address unresolved questions about massive star explosions that have broad implications for the formation and evolution of stellar populations, the metal and dust enrichment of galaxies, and the origin of compact remnant objects.
39.	Terhal, Paulien A., et al. (author) A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype 2015 In: American Journal of Medical Genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 167A:3, s. 461-475 Journal article (peer-reviewed)abstract Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency of many clinical features has never been determined. We retrospectively investigated the clinical, radiological, and genotypic data in a group of 93 patients with molecularly confirmed SEDC or a related disorder. The majority of the patients (80/93) had short stature, with radiological features of SEDC (n=64), others having SEMD (n=5), Kniest dysplasia (n=7), spondyloperipheral dysplasia (n=2), or Torrance-like dysplasia (n=2). The remaining 13 patients had normal stature with mild SED, Stickler-like syndrome or multiple epiphyseal dysplasia. Over 50% of the patients had undergone orthopedic surgery, usually for scoliosis, femoral osteotomy or hip replacement. Odontoid hypoplasia was present in 56% (95% CI 38-74) and a correlation between odontoid hypoplasia and short stature was observed. Atlanto-axial instability, was observed in 5 of the 18 patients (28%, 95% CI 10-54) in whom flexion-extension films of the cervical spine were available; however, it was rarely accompanied by myelopathy. Myopia was found in 45% (95% CI 35-56), and retinal detachment had occurred in 12% (95% CI 6-21; median age 14 years; youngest age 3.5 years). Thirty-two patients complained of hearing loss (37%, 95% CI 27-48) of whom 17 required hearing aids. The ophthalmological features and possibly also hearing loss are often relatively frequent and severe in patients with splicing mutations. Based on clinical findings, age at onset and genotype-phenotype correlations in this cohort, we propose guidelines for the management and follow-up in this group of disorders.
40.	Zollino, M, et al. (author) Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement 2019 In: Clinical genetics. - : Wiley. - 1399-0004 .- 0009-9163. ; 95:4, s. 462-478 Journal article (peer-reviewed)
41.	Vermeesch, JR, et al. (author) Guidelines for molecular karyotyping in constitutional genetic diagnosis 2007 In: European journal of human genetics : EJHG. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 15:11, s. 1105-1114 Journal article (peer-reviewed)
42.	Zsíros, Szanna, et al. (author) Serendipitous detection of the dusty Type IIL SN 1980K with JWST/MIRI 2024 In: Monthly notices of the Royal Astronomical Society. - 0035-8711 .- 1365-2966. ; 529:1, s. 155-168 Journal article (peer-reviewed)abstract We present mid-infrared (mid-IR) imaging of the Type IIL supernova (SN) 1980K with the JWST more than 40 yr post-explosion. SN 1980K, located in the nearby (D ≈ 7 Mpc) ‘SN factory’ galaxy NGC 6946, was serendipitously captured in JWST/MIRI images taken of the field of SN 2004et in the same galaxy. SN 1980K serves as a promising candidate for studying the transitional phase between young SNe and older SN remnants and also provides a great opportunity to investigate its the close environment. SN 1980K can be identified as a clear and bright point source in all eight MIRI filters from F560W up to F2550W. We fit analytical dust models to the mid-IR spectral energy distribution that reveal a large amount (Md ≈ 0.002 M⊙) of Si-dominated dust at Tdust≈150 K (accompanied by a hotter dust/gas component), and also computed numerical SED dust models. Radiative transfer modelling of a late-time optical spectrum obtained recently with Keck discloses that an even larger (∼0.24–0.58 M⊙) amount of dust is needed in order for selective extinction to explain the asymmetric line profile shapes observed in SN 1980K. As a conclusion, with JWST, we may see i) pre-existing circumstellar dust heated collisionally (or, partly radiatively), analogous to the equatorial ring of SN 1987A, or ii) the mid-IR component of the presumed newly-formed dust, accompanied by much more colder dust present in the ejecta (as suggested by the late-time the optical spectra).
43.	Denomme-Pichon, AS, et al. (author) Solve-RD: the ITHACA perspective 2022 In: EUROPEAN JOURNAL OF HUMAN GENETICS. - 1018-4813. ; 30:SUPPL 1, s. 236-237 Conference paper (other academic/artistic)
44.	Lyons, Paul A, et al. (author) Genetically Distinct Subsets within ANCA-Associated Vasculitis 2012 In: New England Journal of Medicine. - : Massachusetts Medical Society. - 0028-4793 .- 1533-4406. ; 367:3, s. 214-223 Journal article (peer-reviewed)abstract BACKGROUND less thanbrgreater than less thanbrgreater thanAntineutrophil cytoplasmic antibody (ANCA)-associated vasculitis is a severe condition encompassing two major syndromes: granulomatosis with polyangiitis (formerly known as Wegeners granulomatosis) and microscopic polyangiitis. Its cause is unknown, and there is debate about whether it is a single disease entity and what role ANCA plays in its pathogenesis. We investigated its genetic basis. less thanbrgreater than less thanbrgreater thanMETHODS less thanbrgreater than less thanbrgreater thanA genomewide association study was performed in a discovery cohort of 1233 U. K. patients with ANCA-associated vasculitis and 5884 controls and was replicated in 1454 Northern European case patients and 1666 controls. Quality control, population stratification, and statistical analyses were performed according to standard criteria. less thanbrgreater than less thanbrgreater thanRESULTS less thanbrgreater than less thanbrgreater thanWe found both major-histocompatibility-complex (MHC) and non-MHC associations with ANCA-associated vasculitis and also that granulomatosis with polyangiitis and microscopic polyangiitis were genetically distinct. The strongest genetic associations were with the antigenic specificity of ANCA, not with the clinical syndrome. Anti-proteinase 3 ANCA was associated with HLA-DP and the genes encoding alpha(1)-antitrypsin (SERPINA1) and proteinase 3 (PRTN3) (P = 6.2x10(-89), P = 5.6x10(-12), and P = 2.6x10(-7), respectively). Anti-myeloperoxidase ANCA was associated with HLA-DQ (P = 2.1x10(-8)). less thanbrgreater than less thanbrgreater thanCONCLUSIONS less thanbrgreater than less thanbrgreater thanThis study confirms that the pathogenesis of ANCA-associated vasculitis has a genetic component, shows genetic distinctions between granulomatosis with polyangiitis and microscopic polyangiitis that are associated with ANCA specificity, and suggests that the response against the autoantigen proteinase 3 is a central pathogenic feature of proteinase 3 ANCA-associated vasculitis. These data provide preliminary support for the concept that proteinase 3 ANCA-associated vasculitis and myeloperoxidase ANCA-associated vasculitis are distinct autoimmune syndromes. (Funded by the British Heart Foundation and others.)
45.	Shahbandeh, Melissa, et al. (author) JWST observations of dust reservoirs in type IIP supernovae 2004et and 2017eaw 2023 In: Monthly notices of the Royal Astronomical Society. - 0035-8711 .- 1365-2966. ; 523:4, s. 6048-6060 Journal article (peer-reviewed)abstract Supernova (SN) explosions have been sought for decades as a possible source of dust in the Universe, providing the seeds of galaxies, stars, and planetary systems. SN 1987A offers one of the most promising examples of significant SN dust formation, but until the James Webb Space Telescope (JWST), instruments have traditionally lacked the sensitivity at both late times (>1 yr post-explosion) and longer wavelengths (i.e. >10 μm) to detect analogous dust reservoirs. Here we present JWST/MIRI observations of two historic Type IIP SNe, 2004et and SN 2017eaw, at nearly 18 and 5 yr post-explosion, respectively. We fit the spectral energy distributions as functions of dust mass and temperature, from which we are able to constrain the dust geometry, origin, and heating mechanism. We place a 90 per cent confidence lower limit on the dust masses for SNe 2004et and 2017eaw of >0.014 and >4 × 10−4 M⊙, respectively. More dust may exist at even colder temperatures or may be obscured by high optical depths. We conclude dust formation in the ejecta to be the most plausible and consistent scenario. The observed dust is radiatively heated to ∼100–150 K by ongoing shock interaction with the circumstellar medium. Regardless of the best fit or heating mechanism adopted, the inferred dust mass for SN 2004et is the second highest (next to SN 1987A) mid-infrared inferred dust mass in extragalactic SNe thus far, promoting the prospect of SNe as potential significant sources of dust in the Universe.
46.	Shaw, W, et al. (author) Timing Of Primary Surgery for cleft palate (TOPS): protocol for a randomised trial of palate surgery at 6 months versus 12 months of age 2019 In: BMJ Open. - : BMJ. - 2044-6055. ; 9:7 Journal article (peer-reviewed)abstract Introduction Cleft palate is among the most common birth abnormalities. The success of primary surgery in the early months of life is crucial for successful feeding, speech, hearing, dental development and facial growth. Over recent decades, age at palatal surgery in infancy has reduced. This has led to palatal closure in one-stage procedures being carried out around the age of 12 months, but in some cases as early as 6 months. The primary objective of the Timing Of Primary Surgery for Cleft Palate (TOPS)trial is to determine whether surgery for cleft palate performed at 6 or 12 months of age is most beneficial for speech outcomes. Methods and analysis Infants with a diagnosis of non-syndromic isolated cleft palate will be randomised to receive standardised primary surgery (Sommerlad technique) for closure of the cleft at either 6 months or 12 months, corrected for gestational age. The primary outcome will be perceived insufficient velopharyngeal function at 5 years of age. Secondary outcomes measured across 12 months, 3 years and 5 years will include growth, safety of the procedure, dentofacial development, speech, hearing level and middle ear function. Video and audio recordings of speech will be collected in a standardised age-appropriate manner and analysed independently by multiple speech and language therapists. The trial aims to recruit and follow-up 300 participants per arm. Data will be analysed according to the intention-to-treat principle using a 5% significance level. All analyses will be prespecified within a full and detailed statistical analysis plan. Ethics and dissemination Ethical approval has been sought in each participating country according to country-specific procedures. Trial results will be presented at conferences, published in peer-reviewed journals and disseminated through relevant patient support groups.
47.	Souche, E, et al. (author) Recommendations for whole genome sequencing in diagnostics for rare diseases 2022 In: European journal of human genetics : EJHG. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 30:109, s. 1017-1021 Journal article (peer-reviewed)abstract In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGentest in order to assist laboratories in the implementation and accreditation of NGS in a diagnostic setting. These guidelines mainly focused on Whole Exome Sequencing (WES) and targeted (gene panels) sequencing detecting small germline variants (Single Nucleotide Variants (SNVs) and insertions/deletions (indels)). Since then, Whole Genome Sequencing (WGS) has been increasingly introduced in the diagnosis of rare diseases as WGS allows the simultaneous detection of SNVs, Structural Variants (SVs) and other types of variants such as repeat expansions. The use of WGS in diagnostics warrants the re-evaluation and update of previously published guidelines. This work was jointly initiated by EuroGentest and the Horizon2020 project Solve-RD. Statements from the 2016 guidelines have been reviewed in the context of WGS and updated where necessary. The aim of these recommendations is primarily to list the points to consider for clinical (laboratory) geneticists, bioinformaticians, and (non-)geneticists, to provide technical advice, aid clinical decision-making and the reporting of the results.

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