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Article

Gene-based and pathway-based testing for rare-variant association in affected sib pairs.

Genetic epidemiology - 1 Jun 2020

Romanescu Razvan G, Green Jessica, Andrulis Irene L, Bull Shelley B

Abstract excerpt

Next generation sequencing technologies have made it possible to investigate the role of rare variants (RVs) in disease etiology. Because RVs associated with disease susceptibility tend to be enriched in families with affected individuals, study designs based on affected sib pairs (ASP) can be more powerful than case-control studies. We construct tests of RV-set association in ASPs for single genomic regions as...

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PMID: 32237178
DOI: 10.1002/gepi.22291
PMCID: PMC7318298

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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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