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Journal ArticleDOI

Where Are the Disease-Associated eQTLs?

Benjamin D. Umans, +2 more
- 01 Feb 2021 - 
- Vol. 37, Iss: 2, pp 109-124
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TLDR
It is discussed new technologies that can extend the standard regulatory mapping framework to more diverse, disease-relevant cell types and states and suggest an alternative strategy drawing on the dynamic and highly context-specific nature of gene regulation.
About: 
This article is published in Trends in Genetics.The article was published on 2021-02-01. It has received 134 citations till now. The article focuses on the topics: Regulation of gene expression & Expression quantitative trait loci.

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Citations
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Integrative analysis of 111 reference human epigenomes

Anshul Kundaje, +24 more
TL;DR: In this article, the authors describe the integrative analysis of 111 reference human epigenomes generated as part of the NIH Roadmap Epigenomics Consortium, profiled for histone modification patterns, DNA accessibility, DNA methylation and RNA expression.

Tissue-specific regulatory circuits reveal variable modular perturbations across complex diseases

Daniel Marbach, +5 more
TL;DR: In this article, the authors developed a comprehensive resource of 394 cell type and tissue-specific gene regulatory networks for human, each specifying the genome-wide connectivity among transcription factors, enhancers, promoters and genes.

Systematic Localization of Common Disease-Associated Variation in

Matthew T. Maurano, +31 more
TL;DR: The authors found that 80% of the deoxyribonuclease I hypersensitive sites (DHSs) are active during fetal development and are enriched in variants associated with gestational exposure-related phenotypes.
Journal ArticleDOI

A compendium of uniformly processed human gene expression and splicing quantitative trait loci.

Nurlan Kerimov, +16 more
- 06 Sep 2021 - 
TL;DR: The eQTL Catalogue as discussed by the authors is a set of gene expression quantitative trait locus (eQTL) studies published their summary statistics, which can be used to gain insight into complex human traits by downstream analyses, such as fine mapping and co-localization.
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Single-cell eQTL mapping identifies cell type–specific genetic control of autoimmune disease

Seyhan Yazar, +16 more
- 08 Apr 2022 - 
TL;DR: This work brings together genetic epidemiology with scRNA-seq to uncover drivers of interindividual variation in the immune system and investigates how eQTLs affect the expression variation of essential immune genes in specific cell types and provided experimental support for established hypotheses of cellular mechanisms in complex autoimmune diseases.
References
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Journal ArticleDOI

An integrated encyclopedia of DNA elements in the human genome

Principal investigators, +3 more
- 06 Sep 2012 - 
TL;DR: The Encyclopedia of DNA Elements project provides new insights into the organization and regulation of the authors' genes and genome, and is an expansive resource of functional annotations for biomedical research.
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Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, +106 more
- 18 Aug 2016 - 
TL;DR: The aggregation and analysis of high-quality exome (protein-coding region) DNA sequence data for 60,706 individuals of diverse ancestries generated as part of the Exome Aggregation Consortium (ExAC) provides direct evidence for the presence of widespread mutational recurrence.
Journal ArticleDOI

Finding the missing heritability of complex diseases

Teri A. Manolio, +27 more
- 08 Oct 2009 - 
TL;DR: This paper examined potential sources of missing heritability and proposed research strategies, including and extending beyond current genome-wide association approaches, to illuminate the genetics of complex diseases and enhance its potential to enable effective disease prevention or treatment.
Journal ArticleDOI

Integrative analysis of 111 reference human epigenomes

Anshul Kundaje, +123 more
- 19 Feb 2015 - 
TL;DR: It is shown that disease- and trait-associated genetic variants are enriched in tissue-specific epigenomic marks, revealing biologically relevant cell types for diverse human traits, and providing a resource for interpreting the molecular basis of human disease.

Integrative analysis of 111 reference human epigenomes

Anshul Kundaje, +24 more
TL;DR: In this article, the authors describe the integrative analysis of 111 reference human epigenomes generated as part of the NIH Roadmap Epigenomics Consortium, profiled for histone modification patterns, DNA accessibility, DNA methylation and RNA expression.
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