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Article

Global analysis of disease-related DNA sequence variation in 10 healthy individuals: implications for whole genome-based clinical diagnostics.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2011

Moore Barry, Hu Hao, Singleton Marc, De La Vega Francisco M, Reese Martin G, Yandell Mark

Abstract excerpt

BACKGROUND: Understanding how sequence variants within healthy genomes are distributed with respect to ethnicity and disease-implicated genes is an essential first step toward establishing baselines for personalized genomic medicine. METHODS: In this study, we present an analysis of 10 genomes from healthy individuals of various ethnicities, produced using six different sequencing technologies. In total, these...

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Identifiers

PMID: 21325948
DOI: 10.1097/GIM.0b013e31820ed321
PMCID: PMC3558030

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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