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Article

Analyzing the most frequent disease loci in targeted patient categories optimizes disease gene identification and test accuracy worldwide.

Journal of translational medicine - 21 Jan 2015

Lebo Roger V, Tonk Vijay S

Abstract excerpt

BACKGROUND: Our genomewide studies support targeted testing the most frequent genetic diseases by patient category: (1) pregnant patients, (2) at-risk conceptuses, (3) affected children, and (4) abnormal adults. This approach not only identifies most reported disease causing sequences accurately, but also minimizes incorrectly identified additional disease causing loci. METHODS: Diseases were grouped in...

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Share to Chromosomes, Human
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25604770
DOI: 10.1186/s12967-014-0333-8
PMCID: PMC4312458

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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