Article

<i>KinformR</i>: novel pedigree and candidate variant scoring methods for family-based genetic studies

2025-10-08

Abstract excerpt

<h4>Summary</h4> Family-based genetic studies are employed to identify rare variants underlying heritable diseases. In practice, these studies present challenges in both participant enrollment and variant prioritization. Family-based studies often include many pedigrees that can be difficult to prioritize, and within families, not all family members are equally important as subjects for variant analysis. Understa...

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Literature Corpus work: cd0197a6-321a-5133-8c10-093033e3d6ce
DOI: 10.1101/2025.10.06.25337426

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