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Article

RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data.

Bioinformatics (Oxford, England) - 1 May 2016

Zhan Xiaowei, Hu Youna, Li Bingshan, Abecasis Goncalo R, Liu Dajiang J

Abstract excerpt

MOTIVATION: Next-generation sequencing technologies have enabled the large-scale assessment of the impact of rare and low-frequency genetic variants for complex human diseases. Gene-level association tests are often performed to analyze rare variants, where multiple rare variants in a gene region are analyzed jointly. Applying gene-level association tests to analyze sequence data often requires integrating...

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PMID: 27153000
DOI: 10.1093/bioinformatics/btw079
PMCID: PMC4848408

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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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