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
34 shownAn Integrated TCGA Pan-Cancer Clinical Data Resource to Drive High-Quality Survival Outcome Analytics
For a decade, The Cancer Genome Atlas (TCGA) program collected clinicopathologic annotation data along with multi-platform molecular profiles of more than 11,000 human tumors ac...
The 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...
The Immune Landscape of Cancer
We performed an extensive immunogenomic analysis of more than 10,000 tumors comprising 33 diverse cancer types by utilizing data compiled by TCGA. Across cancer types, we identi...
The Genotype-Tissue Expression (GTEx) project.
Genome-wide association studies have identified thousands of loci for common diseases, but, for the majority of these, the mechanisms underlying disease susceptibility remain un...
Inferring tumour purity and stromal and immune cell admixture from expression data
Infiltrating stromal and immune cells form the major fraction of normal cells in tumour tissue and not only perturb the tumour signal in molecular studies but also have an impor...
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...
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.
Assessing the significance of chromosomal aberrations in cancer: Methodology and application to glioma
Comprehensive knowledge of the genomic alterations that underlie cancer is a critical foundation for diagnostics, prognostics, and targeted therapeutics. Systematic efforts to a...
Modeling Genomic Diversity and Tumor Dependency in Malignant Melanoma
Abstract The classification of human tumors based on molecular criteria offers tremendous clinical potential; however, discerning critical and “druggable” effectors on a large s...
Predicting drug susceptibility of non–small cell lung cancers based on genetic lesions
Somatic genetic alterations in cancers have been linked with response to targeted therapeutics by creation of specific dependency on activated oncogenic signaling pathways. Howe...
Integrated Genome-Wide DNA Copy Number and Expression Analysis Identifies Distinct Mechanisms of Primary Chemoresistance in Ovarian Carcinomas
Abstract Purpose: A significant number of women with serous ovarian cancer are intrinsically refractory to platinum-based treatment. We analyzed somatic DNA copy number variatio...
Frequent Co-Authors
Researcher Info
- h-index
- 34
- Publications
- 35
- Citations
- 154,872
- Institution
- Harvard University
External Links
Identifiers
- ORCID
- 0000-0002-0936-0753
Impact Metrics
h-index
34
h-index: Number of publications with at least h citations each.