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2.
  • Orr, Russell J.S., et al. (author)
  • Paleozoic origins of cheilostome bryozoans and their parental care inferred by a new genome-skimmed phylogeny
  • 2022
  • In: Science Advances. - : American Association for the Advancement of Science (AAAS). - 2375-2548. ; 8:13
  • Journal article (peer-reviewed)abstract
    • Phylogenetic relationships and the timing of evolutionary events are essential for understanding evolution on longer time scales. Cheilostome bryozoans are a group of ubiquitous, species-rich, marine colonial organisms with an excellent fossil record but lack phylogenetic relationships inferred from molecular data. We present genome-skimmed data for 395 cheilostomes and combine these with 315 published sequences to infer relationships and the timing of key events among c. 500 cheilostome species. We find that named cheilostome genera and species are phylogenetically coherent, rendering fossil or contemporary specimens readily delimited using only skeletal morphology. Our phylogeny shows that parental care in the form of brooding evolved several times independently but was never lost in cheilostomes. Our fossil calibration, robust to varied assumptions, indicates that the cheilostome lineage and parental care therein could have Paleozoic origins, much older than the first known fossil record of cheilostomes in the Late Jurassic.
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3.
  • Abolfathi, Bela, et al. (author)
  • The Fourteenth Data Release of the Sloan Digital Sky Survey : First Spectroscopic Data from the Extended Baryon Oscillation Spectroscopic Survey and from the Second Phase of the Apache Point Observatory Galactic Evolution Experiment
  • 2018
  • In: Astrophysical Journal Supplement Series. - : IOP Publishing Ltd. - 0067-0049 .- 1538-4365. ; 235:2
  • Journal article (peer-reviewed)abstract
    • The fourth generation of the Sloan Digital Sky Survey (SDSS-IV) has been in operation since 2014 July. This paper describes the second data release from this phase, and the 14th from SDSS overall (making this Data Release Fourteen or DR14). This release makes the data taken by SDSS-IV in its first two years of operation (2014-2016 July) public. Like all previous SDSS releases, DR14 is cumulative, including the most recent reductions and calibrations of all data taken by SDSS since the first phase began operations in 2000. New in DR14 is the first public release of data from the extended Baryon Oscillation Spectroscopic Survey; the first data from the second phase of the Apache Point Observatory (APO) Galactic Evolution Experiment (APOGEE-2), including stellar parameter estimates from an innovative data-driven machine-learning algorithm known as "The Cannon"; and almost twice as many data cubes from the Mapping Nearby Galaxies at APO (MaNGA) survey as were in the previous release (N = 2812 in total). This paper describes the location and format of the publicly available data from the SDSS-IV surveys. We provide references to the important technical papers describing how these data have been taken (both targeting and observation details) and processed for scientific use. The SDSS web site (www.sdss.org) has been updated for this release and provides links to data downloads, as well as tutorials and examples of data use. SDSS-IV is planning to continue to collect astronomical data until 2020 and will be followed by SDSS-V.
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4.
  • Adamina, Michel, et al. (author)
  • ECCO Guidelines on Therapeutics in Crohns Disease: Surgical Treatment
  • 2020
  • In: Journal of Crohn's & Colitis. - : OXFORD UNIV PRESS. - 1873-9946 .- 1876-4479. ; 14:2, s. 155-168
  • Journal article (peer-reviewed)abstract
    • This article is the second in a series of two publications relating to the European Crohns and Colitis Organisation [ECCO] evidence-based consensus on the management of Crohns disease. The first article covers medical management; the present article addresses surgical management, including preoperative aspects and drug management before surgery. It also provides technical advice for a variety of common clinical situations. Both articles together represent the evidence-based recommendations of the ECCO for Crohns disease and an update of previous guidelines.
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5.
  • Beecham, Ashley H, et al. (author)
  • Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
  • 2013
  • In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:11, s. 1353-60
  • Journal article (peer-reviewed)abstract
    • Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variants at 103 discrete loci outside of the major histocompatibility complex. With high-resolution Bayesian fine mapping, we identified five regions where one variant accounted for more than 50% of the posterior probability of association. This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.
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6.
  • Blanton, Michael R., et al. (author)
  • Sloan Digital Sky Survey IV : Mapping the Milky Way, Nearby Galaxies, and the Distant Universe
  • 2017
  • In: Astronomical Journal. - : IOP Publishing Ltd. - 0004-6256 .- 1538-3881. ; 154:1
  • Journal article (peer-reviewed)abstract
    • We describe the Sloan Digital Sky Survey IV (SDSS-IV), a project encompassing three major spectroscopic programs. The Apache Point Observatory Galactic Evolution Experiment 2 (APOGEE-2) is observing hundreds of thousands of Milky Way stars at high resolution and. high signal-to-noise ratios in the near-infrared. The Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey is obtaining spatially resolved spectroscopy for thousands of nearby galaxies (median z similar to 0.03). The extended Baryon Oscillation Spectroscopic Survey (eBOSS) is mapping the galaxy, quasar, and neutral gas distributions between z similar to 0.6 and 3.5 to constrain cosmology using baryon acoustic oscillations, redshift space distortions, and the shape of the power spectrum. Within eBOSS, we are conducting two major subprograms: the SPectroscopic IDentification of eROSITA Sources (SPIDERS), investigating X-ray AGNs. and galaxies in X-ray clusters, and the Time Domain Spectroscopic Survey (TDSS), obtaining spectra of variable sources. All programs use the 2.5 m Sloan Foundation Telescope at the. Apache Point Observatory; observations there began in Summer 2014. APOGEE-2 also operates a second near-infrared spectrograph at the 2.5 m du Pont Telescope at Las Campanas Observatory, with observations beginning in early 2017. Observations at both facilities are scheduled to continue through 2020. In keeping with previous SDSS policy, SDSS-IV provides regularly scheduled public data releases; the first one, Data Release 13, was made available in 2016 July.
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7.
  • Brownstein, Catherine A., et al. (author)
  • An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
  • 2014
  • In: Genome Biology. - : Springer Science and Business Media LLC. - 1465-6906 .- 1474-760X. ; 15:3, s. R53-
  • Journal article (peer-reviewed)abstract
    • Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. Results: A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. Conclusions: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups.
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8.
  • Falster, Daniel, et al. (author)
  • AusTraits, a curated plant trait database for the Australian flora
  • 2021
  • In: Scientific Data. - : Nature Portfolio. - 2052-4463. ; 8:1
  • Journal article (peer-reviewed)abstract
    • We introduce the AusTraits database - a compilation of values of plant traits for taxa in the Australian flora (hereafter AusTraits). AusTraits synthesises data on 448 traits across 28,640 taxa from field campaigns, published literature, taxonomic monographs, and individual taxon descriptions. Traits vary in scope from physiological measures of performance (e.g. photosynthetic gas exchange, water-use efficiency) to morphological attributes (e.g. leaf area, seed mass, plant height) which link to aspects of ecological variation. AusTraits contains curated and harmonised individual- and species-level measurements coupled to, where available, contextual information on site properties and experimental conditions. This article provides information on version 3.0.2 of AusTraits which contains data for 997,808 trait-by-taxon combinations. We envision AusTraits as an ongoing collaborative initiative for easily archiving and sharing trait data, which also provides a template for other national or regional initiatives globally to fill persistent gaps in trait knowledge.
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9.
  • Flenady, Vicki, et al. (author)
  • Stillbirths : recall to action in high-income countries.
  • 2016
  • In: The Lancet. - 0140-6736 .- 1474-547X. ; 387:10019, s. 691-702
  • Journal article (peer-reviewed)abstract
    • Variation in stillbirth rates across high-income countries and large equity gaps within high-income countries persist. If all high-income countries achieved stillbirth rates equal to the best performing countries, 19,439 late gestation (28 weeks or more) stillbirths could have been avoided in 2015. The proportion of unexplained stillbirths is high and can be addressed through improvements in data collection, investigation, and classification, and with a better understanding of causal pathways. Substandard care contributes to 20-30% of all stillbirths and the contribution is even higher for late gestation intrapartum stillbirths. National perinatal mortality audit programmes need to be implemented in all high-income countries. The need to reduce stigma and fatalism related to stillbirth and to improve bereavement care are also clear, persisting priorities for action. In high-income countries, a woman living under adverse socioeconomic circumstances has twice the risk of having a stillborn child when compared to her more advantaged counterparts. Programmes at community and country level need to improve health in disadvantaged families to address these inequities.
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10.
  • Guintivano, Jerry, et al. (author)
  • Meta-Analyses of Genome-Wide Association Studies for Postpartum Depression
  • 2023
  • In: American Journal of Psychiatry. - : American Psychiatric Association Publishing. - 0002-953X .- 1535-7228. ; 180:12, s. 884-895
  • Journal article (peer-reviewed)abstract
    • OBJECTIVE: Postpartum depression (PPD) is a common subtype of major depressive disorder (MDD) that is more heritable, yet is understudied in psychiatric genetics. The authors conducted meta-analyses of genome-wide association studies (GWASs) to investigate the genetic architecture of PPD.METHOD: Meta-analyses were conducted on 18 cohorts of European ancestry (17,339 PPD cases and 53,426 controls), one cohort of East Asian ancestry (975 cases and 3,780 controls), and one cohort of African ancestry (456 cases and 1,255 controls), totaling 18,770 PPD cases and 58,461 controls. Post-GWAS analyses included 1) single-nucleotide polymorphism (SNP)-based heritability ([Formula: see text]), 2) genetic correlations between PPD and other phenotypes, and 3) enrichment of the PPD GWAS findings in 27 human tissues and 265 cell types from the mouse central and peripheral nervous system.RESULTS: No SNP achieved genome-wide significance in the European or the trans-ancestry meta-analyses. The [Formula: see text] of PPD was 0.14 (SE=0.02). Significant genetic correlations were estimated for PPD with MDD, bipolar disorder, anxiety disorders, posttraumatic stress disorder, insomnia, age at menarche, and polycystic ovary syndrome. Cell-type enrichment analyses implicate inhibitory neurons in the thalamus and cholinergic neurons within septal nuclei of the hypothalamus, a pattern that differs from MDD.CONCLUSIONS: While more samples are needed to reach genome-wide levels of significance, the results presented confirm PPD as a polygenic and heritable phenotype. There is also evidence that despite a high correlation with MDD, PPD may have unique genetic components. Cell enrichment results suggest GABAergic neurons, which converge on a common mechanism with the only medication approved by the U.S. Food and Drug Administration for PPD (brexanolone).
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11.
  • Kehoe, Laura, et al. (author)
  • Make EU trade with Brazil sustainable
  • 2019
  • In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 364:6438, s. 341-
  • Journal article (other academic/artistic)
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12.
  • Klionsky, Daniel J., et al. (author)
  • Guidelines for the use and interpretation of assays for monitoring autophagy
  • 2012
  • In: Autophagy. - : Informa UK Limited. - 1554-8635 .- 1554-8627. ; 8:4, s. 445-544
  • Research review (peer-reviewed)abstract
    • In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes. A key point that needs to be emphasized is that there is a difference between measurements that monitor the numbers or volume of autophagic elements (e.g., autophagosomes or autolysosomes) at any stage of the autophagic process vs. those that measure flux through the autophagy pathway (i.e., the complete process); thus, a block in macroautophagy that results in autophagosome accumulation needs to be differentiated from stimuli that result in increased autophagic activity, defined as increased autophagy induction coupled with increased delivery to, and degradation within, lysosomes (in most higher eukaryotes and some protists such as Dictyostelium) or the vacuole (in plants and fungi). In other words, it is especially important that investigators new to the field understand that the appearance of more autophagosomes does not necessarily equate with more autophagy. In fact, in many cases, autophagosomes accumulate because of a block in trafficking to lysosomes without a concomitant change in autophagosome biogenesis, whereas an increase in autolysosomes may reflect a reduction in degradative activity. Here, we present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes. These guidelines are not meant to be a formulaic set of rules, because the appropriate assays depend in part on the question being asked and the system being used. In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to monitor autophagy. In these guidelines, we consider these various methods of assessing autophagy and what information can, or cannot, be obtained from them. Finally, by discussing the merits and limits of particular autophagy assays, we hope to encourage technical innovation in the field.
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13.
  • Lewis, Katie J S, et al. (author)
  • Comparison of Genetic Liability for Sleep Traits Among Individuals With Bipolar Disorder I or II and Control Participants.
  • 2020
  • In: JAMA psychiatry. - : American Medical Association (AMA). - 2168-6238 .- 2168-622X. ; 77:3, s. 303-310
  • Journal article (peer-reviewed)abstract
    • Insomnia, hypersomnia, and an evening chronotype are common in individuals with bipolar disorder (BD), but whether this reflects shared genetic liability is unclear. Stratifying by BD subtypes could elucidate this association and inform sleep and BD research.To assess whether polygenic risk scores (PRSs) for sleep traits are associated with BD subtypes I and II.This case-control study was conducted in the United Kingdom and Sweden with participants with BD and control participants. Multinomial regression was used to assess whether PRSs for insomnia, daytime sleepiness, sleep duration, and chronotype are associated with BD subtypes compared with control participants. Affected individuals were recruited from the Bipolar Disorder Research Network. Control participants were recruited from the 1958 British Birth Cohort and the UK Blood Service. Analyses were repeated in an independent Swedish sample from August 2018 to July 2019. All participants were of European ancestry.Standardized PRSs derived using alleles from genome-wide association studies of insomnia, sleep duration, daytime sleepiness, and chronotype. These were adjusted for the first 10 population principal components, genotyping platforms, and sex.Association of PRSs with BD subtypes, determined by semistructured psychiatric interview and case notes.The main analysis included 4672 participants with BD (3132 female participants [67.0%]; 3404 with BD-I [72.9%]) and 5714 control participants (2812 female participants [49.2%]). Insomnia PRS was associated with increased risk of BD-II (relative risk [RR], 1.14 [95% CI, 1.07-1.21]; P=8.26×10-5) but not BD-I (RR, 0.98 [95% CI, 0.94-1.03]; P=.409) relative to control participants. Sleep-duration PRS was associated with BD-I (RR, 1.10 [95% CI, 1.06-1.15]; P=1.13×10-5) but not BD-II (RR, 0.99 [95% CI, 0.93-1.06]; P=.818). Associations between (1) insomnia PRS and BD-II and (2) sleep-duration PRS and BD-I were replicated in the Swedish sample of 4366 individuals with BD (2697 female participants [61.8%]; 2627 with BD-I [60.2%]) and 6091 control participants (3767 female participants [61.8%]). Chronotype and daytime-sleepiness PRS were not associated with BD subtypes.Per this analysis, BD subtypes differ in genetic liability to insomnia and hypersomnia, providing further evidence that the distinction between BD-I and BD-II has genetic validity. This distinction will be crucial in selecting participants for future research on the role of sleep disturbance in BD.
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14.
  • Lu, Xinze, et al. (author)
  • Marine redox conditions during deposition of Late Ordovician and Early Silurian organic-rich mudrocks in the Siljan ring district, central Sweden
  • 2017
  • In: Chemical Geology. - : Elsevier BV. - 0009-2541 .- 1872-6836. ; 457, s. 75-94
  • Journal article (peer-reviewed)abstract
    • The Late Ordovician Period witnessed the second largest mass extinction in the Phanerozoic Eon and the Hirnantian glaciation. To infer ocean redox conditions across the Ordovician-Silurian transition, we measured the U (as δ238U relative to standard CRM145 = 0‰) and Mo (as δ98Mo relative to standard NIST SRM 3134 = +0.25‰) isotope compositions of 26 organic-rich mudrock samples from the Late Ordovician (Katian) Fjacka Shale and the Early Silurian (Aeronian-Telychian) Kallholn Formation (Siljan ring district, Sweden). The magnitude of Re, Mo, and U enrichments, ReEF/MoEF and UEF/MoEF ratios, and sedimentary Fe speciation point to locally euxinic bottom water conditions during deposition of the Fjacka Shale. The same proxies suggest that black shales of the Kallholn Formation were deposited under transiently euxinic conditions with the chemocline situated near the sediment-water interface, whereas gray shales stratigraphically equivalent to the upper Kallholn Formation were deposited from oxygenated bottom waters. These observations are consistent with higher δ98Mo and δ238U in the Fjacka Shale compared with the Kallholn Formation.Because the Fjacka Shale was deposited from persistently euxinic bottom waters, the Mo and U isotope compositions from these rocks can be used to estimate the extent of global ocean euxinia and ocean anoxia (euxinic plus ferruginous conditions), respectively. Elevated MoEF and Mo/TOC ratios in the euxinic Fjacka Shale suggest no more than moderate basin restriction from the open ocean as well as non-quantitative removal of Mo from the euxinic bottom waters, thus pointing to Mo isotope fractionation between seawater and the euxinic sediments. Hence, we infer that even the highest δ98Mo (+1.28‰) preserved in the Fjacka Shale is only a minimum estimate for the Mo isotope composition of coeval global seawater. Correcting for seawater-sediment Mo isotope fractionation, the δ98Mo of late Katian seawater may have been +1.4-2.1%0, which corresponds to similar to 10-70% Mo removal into the euxinic sink. The average authigenic δ238U of the Fjacka Shale is 0.05‰ to +0.02‰ after correcting for a range of possible detrital δ238U values, thus yielding an overall average of-0‰. Taking into account isotope fractionation during U removal to euxinic sediments, we infer that late Katian seawater δ238U was about 0.85‰ to 0.60‰. A steady-state U isotope mass balance model reveals that 46-63% of riverine U input was removed in anoxic settings. Based on the Mo and U isotope data, we infer that euxinic and anoxic waters may have covered <1% and at least 5% (potentially tens of percent) of the total seafloor area during the late Katian, respectively, based on previously published models that relate the magnitude of Mo and U burial fluxes to the areal extent of euxinic and anoxic seafloor. By comparison, only 021-035% and <1% of the total seafloor area was covered by anoxic waters today and during the Cenozoic, respectively. The difference between the estimated extent of ocean anoxia (euxinic plus ferruginous) and ocean euxinia points to an appreciable extent of ferruginous water masses during the late Katian. Integration of our data with previous studies thus supports the hypothesis that ocean oxygenation intensified during the subsequent Hirnantian glaciation (when seawater δ98Mo temporarily reached values similar to today). Hence, environmental stresses related to glaciation, not an expansion of ocean anoxia, may have triggered the first phase of the Hirnantian mass extinction.
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15.
  • Lu, Xinze, et al. (author)
  • Reconstruction of local and global marine redox conditions during deposition of Late Ordovician and Early Silurian organic-rich mudrocks in the Siljan ring district, central Sweden
  • 2015
  • In: Geological Society of America Abstracts with Programs. Vol. 47, No. 7. ; , s. 698-
  • Conference paper (other academic/artistic)abstract
    • The Siljan ring district in central Sweden was created by a bolide impact at 377±2 Ma that triggered oil generation from organic-richmudrocks (ORM) of the Late Ordovician (Katian) Fjäcka Shale and/or the Early Silurian (Rhuddanian-Telychian) Kallholn Formation.New drill cores obtained by Swedish private company IGRENE AB in 2011 provide an opportunity to significantly improve constraintson the global ocean redox conditions before and after the Late Ordovician Hirnantian glaciation using the U and Mo isotopepaleoredox proxies. Here, we analyzed δ238U (relative to standard CRM145 = 0‰) and δ98Mo (relative to standard NIST SRM 3134 =+0.25‰) of 26 ORM samples from the Fjäcka Shale, Kallholn Formation, and latter deposited Nederberga Formation. The extent ofRe, Mo, and U enrichment, Re/Mo and U/Mo ratios, and Fe speciation indicate euxinic and oxygenated bottom water conditions duringdeposition of the Fjäcka Shale and Nederberga Formation, respectively. The same proxies suggest that the Kallholn Formation wasdeposited under transiently euxinic conditions with the chemocline situated near the sediment-water interface.The most euxinic shales provide the most relevant estimates of global redox conditions. As expected, the euxinic Fjäcka Shale yieldsthe highest δ98Mo (~1.3‰) and δ238U (~0.1‰) of the studied units. High Mo/TOC ratios (>30 ppm/wt%) of the Fjäcka Shale indicateweak basin restriction and large amounts of Mo in the euxinic bottom waters, which could lead to Mo isotope fractionations betweenseawater and sediments due to incomplete formation/removal of tetrathiomolybdate. This interpretation is further supported by high Uisotope composition in the Fjäcka Shale, which is only slightly lower than the modeled value of 0.2‰ for modern open ocean euxinicsediments. Expanded ocean anoxia should lead to deposition of ORMs with low δ238U (<0‰) as observed during the Cenomanian-Turonian OAE2. Hence, the relatively high δ238U coupled with high Mo, Re, and U enrichments and Mo/TOC ratios in the Fjäcka Shalesuggest a more oxygenated ocean prior to the Hirnantian glaciation than previously thought, though the extent of oxygenation was lessthan today.
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16.
  • Orr, Russell J.S., et al. (author)
  • A molecular phylogeny of historical and contemporary specimens of an under-studied micro-invertebrate group
  • 2021
  • In: Ecology and Evolution. - : Wiley. - 2045-7758. ; 11:1, s. 309-320
  • Journal article (peer-reviewed)abstract
    • © 2020 The Authors. Ecology and Evolution published by John Wiley & Sons Ltd. Resolution of relationships at lower taxonomic levels is crucial for answering many evolutionary questions, and as such, sufficiently varied species representation is vital. This latter goal is not always achievable with relatively fresh samples. To alleviate the difficulties in procuring rarer taxa, we have seen increasing utilization of historical specimens in building molecular phylogenies using high throughput sequencing. This effort, however, has mainly focused on large-bodied or well-studied groups, with small-bodied and under-studied taxa under-prioritized. Here, we utilize both historical and contemporary specimens, to increase the resolution of phylogenetic relationships among a group of under-studied and small-bodied metazoans, namely, cheilostome bryozoans. In this study, we pioneer the sequencing of air-dried cheilostomes, utilizing a recently developed library preparation method for low DNA input. We evaluate a de novo mitogenome assembly and two iterative methods, using the sequenced target specimen as a reference for mapping, for our sequences. In doing so, we present mitochondrial and ribosomal RNA sequences of 43 cheilostomes representing 37 species, including 14 from historical samples ranging from 50 to 149years old. The inferred phylogenetic relationships of these samples, analyzed together with publicly available sequence data, are shown in a statistically well-supported 65 taxa and 17 genes cheilostome tree, which is also the most broadly sampled and largest to date. The robust phylogenetic placement of historical samples whose contemporary conspecifics and/or congenerics have been sequenced verifies the appropriateness of our workflow and gives confidence in the phylogenetic placement of those historical samples for which there are no close relatives sequenced. The success of our workflow is highlighted by the circularization of a total of 27 mitogenomes, seven from historical cheilostome samples. Our study highlights the potential of utilizing DNA from micro-invertebrate specimens stored in natural history collections for resolving phylogenetic relationships among species.
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18.
  • Spaethling, Jennifer M., et al. (author)
  • Primary Cell Culture of Live Neurosurgically Resected Aged Adult Human Brain Cells and Single Cell Transcriptomics
  • 2017
  • In: Cell Reports. - : Elsevier BV. - 2211-1247. ; 18:3, s. 791-803
  • Journal article (peer-reviewed)abstract
    • Investigation of human CNS disease and drug effects has been hampered by the lack of a system that enables single-cell analysis of live adult patient brain cells. We developed a culturing system, based on a papain-aided procedure, for resected adult human brain tissue removed during neurosurgery. We performed single-cell transcriptomics on over 300 cells, permitting identification of oligodendrocytes, microglia, neurons, endothelial cells, and astrocytes after 3 weeks in culture. Using deep sequencing, we detected over 12,000 expressed genes, including hundreds of cell-type-enriched mRNAs, IncRNAs and pri-miRNAs. We describe cell-type-and patient-specific transcriptional hierarchies. Single-cell transcriptomics on cultured live adult patient derived cells is a prime example of the promise of personalized precision medicine. Because these cells derive from subjects ranging in age into their sixties, this system permits human aging studies previously possible only in rodent systems.
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