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Article

EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics.

BMC bioinformatics - 1 Jan 2012

Coutant Sophie, Cabot Chloé, Lefebvre Arnaud, Léonard Martine, Prieur-Gaston Elise, Campion Dominique, Lecroq Thierry, Dauchel Hélène

Abstract excerpt

BACKGROUND: Whole exome sequencing (WES) has become the strategy of choice to identify a coding allelic variant for a rare human monogenic disorder. This approach is a revolution in medical genetics history, impacting both fundamental research, and diagnostic methods leading to personalized medic...

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Identifiers

PMID: 23095660
DOI: 10.1186/1471-2105-13-S14-S9
PMCID: PMC3439720

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23095660-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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