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Article

Detecting false-positive signals in exome sequencing.

Human mutation - 1 Apr 2012

Fuentes Fajardo Karin V, Adams David, Mason Christopher E, Sincan Murat, Tifft Cynthia, Toro Camilo, Boerkoel Cornelius F, Gahl William, Markello Thomas

Abstract excerpt

Disease gene discovery has been transformed by affordable sequencing of exomes and genomes. Identification of disease-causing mutations requires sifting through a large number of sequence variants. A subset of the variants are unlikely to be good candidates for disease causation based on one or more of the following criteria: (1) being located in genomic regions known to be highly polymorphic, (2) having...

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Identifiers

PMID: 22294350
DOI: 10.1002/humu.22033
PMCID: PMC3302978

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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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