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

Abstract excerpt

<title>Abstract</title> <p>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...

Topics

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• Pedigree
• Algorithms
• Alleles
• Computational Biology
• Haplotypes
• High-Throughput Nucleotide Sequencing
• Polymorphism, Single Nucleotide
• Software

Identifiers and source

Literature Corpus work

37e1455d-3c68-5c24-a0f8-f9459b9ff05c

DOI

10.21203/rs.3.rs-6322826/v1