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Article

Comprehensive variation discovery in single human genomes.

Nature genetics - 1 Dec 2014

Weisenfeld Neil I, Yin Shuangye, Sharpe Ted, Lau Bayo, Hegarty Ryan, Holmes Laurie, Sogoloff Brian, Tabbaa Diana, Williams Louise, Russ Carsten, Nusbaum Chad, Lander Eric S, MacCallum Iain, Jaffe David B

Abstract excerpt

Complete knowledge of the genetic variation in individual human genomes is a crucial foundation for understanding the etiology of disease. Genetic variation is typically characterized by sequencing individual genomes and comparing reads to a reference. Existing methods do an excellent job of dete...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 25326702
DOI: 10.1038/ng.3121
PMCID: PMC4244235

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25326702-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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