Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

Back to research

Comprehensive variation discovery in single human genomes

2014246 citationsJournal Articlegreen Open Access

Authors

Neil Weisenfeld · Broad Institute

Shuangye Yin · Broad Institute

Ted Sharpe · Broad Institute

Bayo Lau · Broad Institute

Ryan Hegarty · Broad Institute

Laurie Holmes · Broad Institute

Brian Sogoloff · Broad Institute

Topics & Keywords

Genomics and Phylogenetic Studies Genomics and Rare Diseases RNA and protein synthesis mechanisms

Publication Details

Published in: Nature Genetics

Volume 46, Issue 12, pp. 1350-1355

DOI: 10.1038/ng.3121

Field-Weighted Citation Impact: 11.82

Comprehensive variation discovery in single human genomes | Researchclopedia

Diana Tabbaa · Broad Institute

Louise Williams · Broad Institute

Carsten Russ · Broad Institute

Chad Nusbaum · Broad Institute

Eric S. Lander · Broad Institute

Iain MacCallum · Broad Institute

David B. Jaffe · Broad Institute