The GTEx Consortium atlas of genetic regulatory effects across human tissues
The Genotype-Tissue Expression (GTEx) project dissects how genetic variation affects gene expression and splicing.
Publications
36 shownThe mutational constraint spectrum quantified from variation in 141,456 humans
Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the f...
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
A Deep Look Into Our Genes Recent debates have focused on the degree of genetic variation and its impact upon health at the genomic level in humans (see the Perspective by Casal...
Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes
Age-related clonal hematopoiesis is a common condition that is associated with increases in the risk of hematologic cancer and in all-cause mortality, with the latter possibly d...
Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels
New strategies for prevention and treatment of type 2 diabetes (T2D) require improved insight into disease etiology. We analyzed 386,731 common single-nucleotide polymorphisms (...
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Next-generation DNA sequencing (NGS) projects, such as the 1000 Genomes Project, are already revolutionizing our understanding of genetic variation among individuals. However, t...
<i>EGFR</i> Mutations in Lung Cancer: Correlation with Clinical Response to Gefitinib Therapy
Receptor tyrosine kinase genes were sequenced in non–small cell lung cancer (NSCLC) and matched normal tissue. Somatic mutations of the epidermal growth factor receptor gene EGF...
From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline
Abstract This unit describes how to use BWA and the Genome Analysis Toolkit (GATK) to map genome sequencing data to a reference and produce high‐quality variant calls that can b...
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
Abstract Upstream open reading frames (uORFs) are tissue-specific cis -regulators of protein translation. Isolated reports have shown that variants that create or disrupt uORFs ...
The effect of LRRK2 loss-of-function variants in humans
Abstract Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be ...
The Mutational Landscape of Head and Neck Squamous Cell Carcinoma
The mutational profile of head and neck cancer is complex and may pose challenges to the development of targeted therapies.
Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease
BACKGROUND: Clonal hematopoiesis of indeterminate potential (CHIP), which is defined as the presence of an expanded somatic blood-cell clone in persons without other hematologic...
Demographic history and rare allele sharing among human populations
High-throughput sequencing technology enables population-level surveys of human genomic variation. Here, we examine the joint allele frequency distributions across continental h...
Frequent Co-Authors
Researcher Info
- h-index
- 36
- Publications
- 38
- Citations
- 192,674
- Institution
- Broad Institute
External Links
Impact Metrics
h-index
36
h-index: Number of publications with at least h citations each.