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Article

Bioinformatics for personal genome interpretation.

Briefings in bioinformatics - 1 Jul 2012

Capriotti Emidio, Nehrt Nathan L, Kann Maricel G, Bromberg Yana

Abstract excerpt

An international consortium released the first draft sequence of the human genome 10 years ago. Although the analysis of this data has suggested the genetic underpinnings of many diseases, we have not yet been able to fully quantify the relationship between genotype and phenotype. Thus, a major current effort of the scientific community focuses on evaluating individual predispositions to specific phenotypic...

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PMID: 22247263
DOI: 10.1093/bib/bbr070
PMCID: PMC3404395

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