Article

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data

2023-12-22

Abstract excerpt

<h4>ABSTRACT</h4> We describe FoundHaplo, a novel identity-by-descent algorithm designed to identify individuals with known, untyped, disease-causing variants using only SNP array data. FoundHaplo leverages knowledge of shared disease haplotypes for inherited disease-causing variants to identify individuals who share the disease haplotype and are, therefore, likely to carry the rare (MAF<0.01) variant. We performe...

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Literature Corpus work: 952f23b0-b976-5079-b0ff-e041c830c083
DOI: 10.1101/2023.12.20.23300328

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