Integrating read-based and population-based phasing for dense and accurate haplotyping of individual genomes.

ABSTRACT:

Motivation

Reconstruction of haplotypes for human genomes is an important problem in medical and population genetics. Hi-C sequencing generates read pairs with long-range haplotype information that can be computationally assembled to generate chromosome-spanning haplotypes. However, the haplotypes have limited completeness and low accuracy. Haplotype information from population reference panels can potentially be used to improve the completeness and accuracy of Hi-C haplotyping.

Results

In this paper, we describe a likelihood based method to integrate short-range haplotype information from a population reference panel of haplotypes with the long-range haplotype information present in sequence reads from methods such as Hi-C to assemble dense and highly accurate haplotypes fo

SUBMITTER: Bansal V 

PROVIDER: S-EPMC6612846 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature