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Article

Identification of deleterious mutations within three human genomes.

Genome research - 1 Sept 2009

Chun Sung, Fay Justin C

Abstract excerpt

Each human carries a large number of deleterious mutations. Together, these mutations make a significant contribution to human disease. Identification of deleterious mutations within individual genome sequences could substantially impact an individual's health through personalized prevention and treatment of disease. Yet, distinguishing deleterious mutations from the massive number of nonfunctional variants that...

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Identifiers

PMID: 19602639
DOI: 10.1101/gr.092619.109
PMCID: PMC2752137

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

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