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Article

Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data.

American journal of human genetics - 2 Jan 2014

He Zongxiao, O'Roak Brian J, Smith Joshua D, Wang Gao, Hooker Stanley, Santos-Cortez Regie Lyn P, Li Biao, Kan Mengyuan, Krumm Nik, Nickerson Deborah A, Shendure Jay, Eichler Evan E, Leal Suzanne M

Abstract excerpt

Many population-based rare-variant (RV) association tests, which aggregate variants across a region, have been developed to analyze sequence data. A drawback of analyzing population-based data is that it is difficult to adequately control for population substructure and admixture, and spurious associations can occur. For RVs, this problem can be substantial, because the spectrum of rare variation can differ...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24360806
DOI: 10.1016/j.ajhg.2013.11.021
PMCID: PMC3882934

Genes

ABCA7

Provenance

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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