Determining Complete Chromosomal Haplotypes by mLinker

Methods in molecular biology(2022)

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摘要
Haplotype ("haploid genotype") phase is the combination of genotypes at sites of genetic variation along a chromosome [1]. We previously demonstrated that the complete chromosomal haplotype of diploid human genomes can be determined using molecular linkage from Hi-C sequencing and linked-reads sequencing [2]. In this chapter, we present a step-by-step guide to perform this analysis using mLinker, a software package for haplotype inference.
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关键词
complete chromosomal haplotypes,mlinker
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