Whole-genome Haplotype Reconstruction using Proximity-ligation and Shotgun Sequencing

ABSTRACT: Rapid advances in high-throughput DNA sequencing technologies are accelerating the pace of research into personalized medicine. While methods for variant discovery and genotyping from whole genome sequencing (WGS) datasets have been well established, linking variants together into a single haplotype remains a challenge. An understanding of complete haplotypes of an individual will help clarify the consequences of inheriting multiple alleles in combination, identify novel disease associations, and augment studies of gene regulation. Although numerous methods have been developed to reconstruct haplotypes from WGS data, chromosome-span haplotypes at high resolution have been difficult to obtain. Here we present a novel method to accurately reconstruct chromosome-span haplotypes from proximity

ORGANISM(S): Homo sapiens

SUBMITTER: Jesse Dixon 

PROVIDER: E-GEOD-48592 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress