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Article

Collective judgment predicts disease-associated single nucleotide variants.

BMC genomics - 1 Jan 2013

Capriotti Emidio, Altman Russ B, Bromberg Yana

Abstract excerpt

BACKGROUND: In recent years the number of human genetic variants deposited into the publicly available databases has been increasing exponentially. The latest version of dbSNP, for example, contains ~50 million validated Single Nucleotide Variants (SNVs). SNVs make up most of human variation and are often the primary causes of disease. The non-synonymous SNVs (nsSNVs) result in single amino acid substitutions and...

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PMID: 23819846
DOI: 10.1186/1471-2164-14-S3-S2
PMCID: PMC3839641

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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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