| 1. |
-
- 2019
-
Tidskriftsartikel (refereegranskat)
|
|
| 2. |
- An, Junghwa, et al.
(författare)
-
Permanent Genetic Resources added to Molecular Ecology Resources Database 1 October 2009-30 November 2009
- 2010
-
Ingår i: Molecular Ecology Resources. - : Wiley. - 1755-098X .- 1755-0998. ; 10:2, s. 404-408
-
Tidskriftsartikel (refereegranskat)abstract
- This article documents the addition of 411 microsatellite marker loci and 15 pairs of Single Nucleotide Polymorphism (SNP) sequencing primers to the Molecular Ecology Resources Database. Loci were developed for the following species: Acanthopagrus schlegeli, Anopheles lesteri, Aspergillus clavatus, Aspergillus flavus, Aspergillus fumigatus, Aspergillus oryzae, Aspergillus terreus, Branchiostoma japonicum, Branchiostoma belcheri, Colias behrii, Coryphopterus personatus, Cynogolssus semilaevis, Cynoglossus semilaevis, Dendrobium officinale, Dendrobium officinale, Dysoxylum malabaricum, Metrioptera roeselii, Myrmeciza exsul, Ochotona thibetana, Neosartorya fischeri, Nothofagus pumilio, Onychodactylus fischeri, Phoenicopterus roseus, Salvia officinalis L., Scylla paramamosain, Silene latifo, Sula sula, and Vulpes vulpes. These loci were cross-tested on the following species: Aspergillus giganteus, Colias pelidne, Colias interior, Colias meadii, Colias eurytheme, Coryphopterus lipernes, Coryphopterus glaucofrenum, Coryphopterus eidolon, Gnatholepis thompsoni, Elacatinus evelynae, Dendrobium loddigesii Dendrobium devonianum, Dysoxylum binectariferum, Nothofagus antarctica, Nothofagus dombeyii, Nothofagus nervosa, Nothofagus obliqua, Sula nebouxii, and Sula variegata. This article also documents the addition of 39 sequencing primer pairs and 15 allele specific primers or probes for Paralithodes camtschaticus.
|
|
| 3. |
- Flannick, Jason, et al.
(författare)
-
Data Descriptor : Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
- 2017
-
Ingår i: Scientific Data. - : Springer Science and Business Media LLC. - 2052-4463. ; 4
-
Tidskriftsartikel (refereegranskat)abstract
- To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (> 80% of low-frequency coding variants in similar to ~82 K Europeans via the exome chip, and similar to ~90% of low-frequency non-coding variants in similar to ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.
|
|
| 4. |
- Fuchsberger, Christian, et al.
(författare)
-
The genetic architecture of type 2 diabetes
- 2016
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 536:7614, s. 41-47
-
Tidskriftsartikel (refereegranskat)abstract
- The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes, but in aggregate, these explain only a fraction of the heritability of this disease. Here, to test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole-genome sequencing in 2,657 European individuals with and without diabetes, and exome sequencing in 12,940 individuals from five ancestry groups. To increase statistical power, we expanded the sample size via genotyping and imputation in a further 111,548 subjects. Variants associated with type 2 diabetes after sequencing were overwhelmingly common and most fell within regions previously identified by genome-wide association studies. Comprehensive enumeration of sequence variation is necessary to identify functional alleles that provide important clues to disease pathophysiology, but large-scale sequencing does not support the idea that lower-frequency variants have a major role in predisposition to type 2 diabetes.
|
|
| 5. |
- Ahn, Sang Hyeon, et al.
(författare)
-
Comparison of the clinical characteristics of bilateral and unilateral fungal balls in Korea
- 2019
-
Ingår i: European Archives of Oto-Rhino-Laryngology. - : Springer International. - 0937-4477 .- 1434-4726. ; 276:7, s. 1975-1980
-
Tidskriftsartikel (refereegranskat)abstract
- Fungal rhinosinusitis occurs in different forms depending on race and region. While allergic fungal rhinosinusitis is common in Caucasians, fungal ball (FB) is more common in Asians. However, most cases are reported as unilateral, and clinical data on bilateral FB (BFB) are rare. Therefore, the purpose of this study was to analyze and to compare the clinical characteristics of BFB and unilateral FB (UFB) in Koreans.
|
|
| 6. |
- Fremling, Christoffer, et al.
(författare)
-
SNIascore : Deep-learning Classification of Low-resolution Supernova Spectra
- 2021
-
Ingår i: Astrophysical Journal Letters. - : American Astronomical Society. - 2041-8205 .- 2041-8213. ; 917:1
-
Tidskriftsartikel (refereegranskat)abstract
- We present SNIascore, a deep-learning-based method for spectroscopic classification of thermonuclear supernovae (SNe Ia) based on very low-resolution (R similar to 100) data. The goal of SNIascore is the fully automated classification of SNe Ia with a very low false-positive rate (FPR) so that human intervention can be greatly reduced in large-scale SN classification efforts, such as that undertaken by the public Zwicky Transient Facility (ZTF) Bright Transient Survey (BTS). We utilize a recurrent neural network architecture with a combination of bidirectional long short-term memory and gated recurrent unit layers. SNIascore achieves a SNIascore simultaneously performs binary classification and predicts the redshifts of secure SNe Ia via regression (with a typical uncertainty of z = 0.01 to z = 0.12). For the magnitude-limited ZTF BTS survey (approximate to 70% SNe Ia), deploying SNIascore reduces the amount of spectra in need of human classification or confirmation by approximate to 60%. Furthermore, SNIascore allows SN Ia classifications to be automatically announced in real time to the public immediately following a finished observation during the night.
|
|
| 7. |
- Irani, I., et al.
(författare)
-
Less Than 1% of Core-collapse Supernovae in the Local Universe Occur in Elliptical Galaxies
- 2022
-
Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 927:1
-
Tidskriftsartikel (refereegranskat)abstract
- We present observations of three core-collapse supernovae (CCSNe) in elliptical hosts, detected by the Zwicky Transient Facility Bright Transient Survey (BTS). SN 2019ape is a SN Ic that exploded in the main body of a typical elliptical galaxy. Its properties are consistent with an explosion of a regular SN Ic progenitor. A secondary g-band light-curve peak could indicate interaction of the ejecta with circumstellar material (CSM). An Ha-emitting source at the explosion site suggests a residual local star formation origin. SN 2018fsh and SN 2020uik are SNe II which exploded in the outskirts of elliptical galaxies. SN 2020uik shows typical spectra for SNe II, while SN 2018fsh shows a boxy nebular Ha profile, a signature of CSM interaction. We combine these 3 SNe with 7 events from the literature and analyze their hosts as a sample. We present multi-wavelength photometry of the hosts, and compare this to archival photometry of all BTS hosts. Using the spectroscopically complete BTS, we conclude that 0.3%(+0.3)(-0.1) of all CCSNe occur in elliptical galaxies. We derive star formation rates and stellar masses for the host galaxies and compare them to the properties of other SN hosts. We show that CCSNe in ellipticals have larger physical separations from their hosts compared to SNe Ia in elliptical galaxies, and discuss implications for star-forming activity in elliptical galaxies.
|
|
| 8. |
- Lee, Seung Joon, et al.
(författare)
-
Microslit on a chip: A simplified filter to capture circulating tumor cells enlarged with microbeads
- 2019
-
Ingår i: PLOS ONE. - : Public Library of Science. - 1932-6203. ; 14:10
-
Tidskriftsartikel (refereegranskat)abstract
- Microchips are widely used to separate circulating tumor cells (CTCs) from whole blood by virtues of sophisticated manipulation for microparticles. Here, we present a chip with an 8 µm high and 27.9 mm wide slit to capture cancer cells bound to 3 µm beads. Apart from a higher purity and recovery rate, the slit design allows for simplified fabrication, easy cell imaging, less clogging, lower chamber pressure and, therefore, higher throughput. The beads were conjugated with anti-epithelial cell adhesion molecules (anti-EpCAM) to selectively bind to breast cancer cells (MCF-7) used to spike the whole blood. The diameter of the cell-bead construct was in average 23.1 µm, making them separable from other cells in the blood. As a result, the cancer cells were separated from 5 mL of whole blood with a purity of 52.0% and a recovery rate of 91.1%, and also we confirmed that the device can be applicable to clinical samples of human breast cancer patients. The simple design with microslit, by eliminating any high-aspect ratio features, is expected to reduce possible defects on the chip and, therefore, more suitable for mass production without false separation outputs.
|
|
| 9. |
- Manning, Alisa, et al.
(författare)
-
A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk
- 2017
-
Ingår i: Diabetes. - : AMER DIABETES ASSOC. - 0012-1797 .- 1939-327X. ; 66:7, s. 2019-2032
-
Tidskriftsartikel (refereegranskat)abstract
- To identify novel coding association signals and facilitate characterization of mechanisms influencing glycemic traits and type 2 diabetes risk, we analyzed 109,215 variants derived from exome array genotyping together with an additional 390,225 variants from exome sequence in up to 39,339 normoglycemic individuals from five ancestry groups. We identified a novel association between the coding variant (p.Pro50Thr) in AKT2 and fasting plasma insulin (FI), a gene in which rare fully penetrant mutations are causal for monogenic glycemic disorders. The low-frequency allele is associated with a 12% increase in FI levels. This variant is present at 1.1% frequency in Finns but virtually absent in individuals from other ancestries. Carriers of the FI-increasing allele had increased 2-h insulin values, decreased insulin sensitivity, and increased risk of type 2 diabetes (odds ratio 1.05). In cellular studies, the AKT2-Thr50 protein exhibited a partial loss of function. We extend the allelic spectrum for coding variants in AKT2 associated with disorders of glucose homeostasis and demonstrate bidirectional effects of variants within the pleckstrin homology domain of AKT2.
|
|
| 10. |
- Mohite, Siddharth R., et al.
(författare)
-
Inferring Kilonova Population Properties with a Hierarchical Bayesian Framework. I. Nondetection Methodology and Single-event Analyses
- 2022
-
Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 925:1
-
Tidskriftsartikel (refereegranskat)abstract
- We present nimbus: a hierarchical Bayesian framework to infer the intrinsic luminosity parameters of kilonovae (KNe) associated with gravitational-wave (GW) events, based purely on nondetections. This framework makes use of GW 3D distance information and electromagnetic upper limits from multiple surveys for multiple events and self-consistently accounts for the finite sky coverage and probability of astrophysical origin. The framework is agnostic to the brightness evolution assumed and can account for multiple electromagnetic passbands simultaneously. Our analyses highlight the importance of accounting for model selection effects, especially in the context of nondetections. We show our methodology using a simple, two-parameter linear brightness model, taking the follow-up of GW190425 with the Zwicky Transient Facility as a single-event test case for two different prior choices of model parameters: (i) uniform/uninformative priors and (ii) astrophysical priors based on surrogate models of Monte Carlo radiative-transfer simulations of KNe. We present results under the assumption that the KN is within the searched region to demonstrate functionality and the importance of prior choice. Our results show consistency with simsurvey-an astronomical survey simulation tool used previously in the literature to constrain the population of KNe. While our results based on uniform priors strongly constrain the parameter space, those based on astrophysical priors are largely uninformative, highlighting the need for deeper constraints. Future studies with multiple events having electromagnetic follow-up from multiple surveys should make it possible to constrain the KN population further.
|
|
