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Article

Incorporating molecular and functional context into the analysis and prioritization of human variants associated with cancer.

Journal of the American Medical Informatics Association : JAMIA - 1 Jan 2000

Peterson Thomas A, Nehrt Nathan L, Park Dohwan, Kann Maricel G

Abstract excerpt

BACKGROUND AND OBJECTIVE: With recent breakthroughs in high-throughput sequencing, identifying deleterious mutations is one of the key challenges for personalized medicine. At the gene and protein level, it has proven difficult to determine the impact of previously unknown variants. A statistical method has been developed to assess the significance of disease mutation clusters on protein domains by incorporating...

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Identifiers

PMID: 22319177
DOI: 10.1136/amiajnl-2011-000655
PMCID: PMC3277632

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