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Gabriel, Stacey

Broad Institute of MIT and Harvard, Cambridge, MA, USA

TitleYearPMID
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. 2021 33568819
Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations. 2019 31869403
A reference panel of 64,976 haplotypes for genotype imputation. 2016 27548312
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. 2014 24766810
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. 2013 23396013
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 2012 22604720
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. 2010 20644199
New models of collaboration in genome-wide association studies: the Genetic Association Information Network. 2007 17728769
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