The GTEx Consortium atlas of genetic regulatory effects across human tissues

doi:10.1126/SCIENCE.AAZ1776

Open AccessJournal ArticleDOI

The GTEx Consortium atlas of genetic regulatory effects across human tissues

François Aguet, +167 more

- 01 Jan 2020 -

Science

- Vol. 369, Iss: 6509, pp 1318-1330

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This article is published in Science.The article was published on 2020-01-01 and is currently open access. It has received 1756 citations till now. The article focuses on the topics: Linkage disequilibrium & Genome-wide association study.

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RCSB Protein Data Bank: powerful new tools for exploring 3D structures of biological macromolecules for basic and applied research and education in fundamental biology, biomedicine, biotechnology, bioengineering and energy sciences.

Stephen K. Burley, +38 more

- 08 Jan 2021 -

Nucleic Acids Research

TL;DR: New features and resources of the RCSB PDB have been described in detail using examples that showcase recently released structures of SARS-CoV-2 proteins and host cell proteins relevant to understanding and addressing the COVID-19 global pandemic.

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WILDS: A Benchmark of in-the-Wild Distribution Shifts

Pang Wei Koh, +22 more

- 14 Dec 2020 -

arXiv: Learning

TL;DR: WILDS is presented, a benchmark of in-the-wild distribution shifts spanning diverse data modalities and applications, and is hoped to encourage the development of general-purpose methods that are anchored to real-world distribution shifts and that work well across different applications and problem settings.

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Mapping the human genetic architecture of COVID-19.

Covid Host Genetics Initiative

- 08 Jul 2021 -

Nature

TL;DR: In this article, the role of human genetics in SARS-CoV-2 infection and COVID-19 severity was investigated and the results of three genome-wide association meta-analyses were presented.

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SARS-CoV-2 infection of the oral cavity and saliva.

Ni Huang, +49 more

- 25 Mar 2021 -

Nature Medicine

TL;DR: In this article, the authors generated and analyzed two single-cell RNA sequencing datasets of the human minor salivary glands and gingiva (9 samples, 13,824 cells), identifying 50 cell clusters.

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New insights into the genetic etiology of Alzheimer’s disease and related dementias

Céline Bellenguez, +401 more

- 01 Apr 2022 -

Nature Genetics

TL;DR: This paper performed a two-stage genome-wide association study with 111,326 clinically diagnosed/proxy AD cases and 677,663 controls and found 75 risk loci, of which 42 were new at the time of analysis.

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Journal ArticleDOI

STAR: ultrafast universal RNA-seq aligner

Alexander Dobin, +8 more

- 01 Jan 2013 -

Bioinformatics

TL;DR: The Spliced Transcripts Alignment to a Reference (STAR) software based on a previously undescribed RNA-seq alignment algorithm that uses sequential maximum mappable seed search in uncompressed suffix arrays followed by seed clustering and stitching procedure outperforms other aligners by a factor of >50 in mapping speed.

...read moreread less

Journal ArticleDOI

Differential expression analysis for sequence count data.

Simon Anders, +1 more

- 27 Oct 2010 -

Genome Biology

TL;DR: A method based on the negative binomial distribution, with variance and mean linked by local regression, is proposed and an implementation, DESeq, as an R/Bioconductor package is presented.

...read moreread less

Journal ArticleDOI

HISAT: a fast spliced aligner with low memory requirements

Daehwan Kim, +2 more

- 01 Apr 2015 -

Nature Methods

TL;DR: Tests showed that HISAT is the fastest system currently available, with equal or better accuracy than any other method, and requires only 4.3 gigabytes of memory.

...read moreread less

Journal ArticleDOI

Statistical significance for genomewide studies

John D. Storey, +1 more

- 05 Aug 2003 -

Proceedings of the National Academy of S...

TL;DR: This work proposes an approach to measuring statistical significance in genomewide studies based on the concept of the false discovery rate, which offers a sensible balance between the number of true and false positives that is automatically calibrated and easily interpreted.

...read moreread less

Journal ArticleDOI

Biological insights from 108 schizophrenia-associated genetic loci

Stephan Ripke, +354 more

- 24 Jul 2014 -

Nature

TL;DR: Associations at DRD2 and several genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses.

...read moreread less