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Statistical Approach Leveraging Genealogies of Populations with a Founder Effect and Identical by Descent Segments to Identify Rare Variants in Complex Diseases

2025-09-18

Abstract excerpt

<h4> Abstract </h4> The missing heritability caused by rare variants (RVs) poses a significant challenge to pre-established statistical methods. Our study aims at detecting RVs using identical-by-descent (IBD) segments as a proxy for recent variants in family data from a population with a founder effect for which genealogy is available—a distinguishing feature of our approach. Inferring IBD segments from genotyp...

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Literature Corpus work
6195f4df-3485-5717-b0f4-93c4089503e1
DOI
10.1101/2025.09.16.25335588
Open publication

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Statistical Approach Leveraging Genealogies of Populations with a Founder Effect and Identical by Descent Segments to Identify Rare Variants in Complex DiseasesDOI 10.1101/2025.09.16.25335588
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