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Article

TinkerHap-a novel read-based phasing algorithm with integrated multimethod support for enhanced accuracy.

GigaScience - 6 Jan 2025

Hartmann Uri, Shaham Eran, Nathan Dafna, Blech Ilana, Zeevi Danny

Abstract excerpt

BACKGROUND: 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 and reliance on external reference panels. RESULTS: To address these limitations, we developed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41147705
DOI: 10.1093/gigascience/giaf138
PMCID: PMC12723663

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