Article

TinkerHap - A Novel Read-Based Phasing Algorithm with Integrated Multi-Method Support for Enhanced Accuracy

2025-02-20

Abstract excerpt

Phasing, the assignment of alleles to their respective parental chromosomes, is fundamental to studying genetic variation and identifying disease-causing variants. Traditional approaches, including statistical, pedigree-based, and read-based phasing, face challenges such as limited accuracy for rare variants, reliance on external reference panels, and constraints in regions with sparse genetic variation. To addres...

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Literature Corpus work: d267f940-7544-5291-9cf0-60cad57c3678
DOI: 10.1101/2025.02.16.638517

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