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Article

Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders.

European journal of human genetics : EJHG - 1 Jan 2016

Brown Robert, Lee Hane, Eskin Ascia, Kichaev Gleb, Lohmueller Kirk E, Reversade Bruno, Nelson Stanley F, Pasaniuc Bogdan

Abstract excerpt

Recent breakthroughs in exome-sequencing technology have made possible the identification of many causal variants of monogenic disorders. Although extremely powerful when closely related individuals (eg, child and parents) are simultaneously sequenced, sequencing of a single case is often unsucce...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25898925
DOI: 10.1038/ejhg.2015.68
PMCID: PMC4795218

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25898925-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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