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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http://dx.doi.org/10.1007/978-1-0716-2819-5_10 | DOI Listing |
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