GAMIBHEAR: whole-genome haplotype reconstruction from Genome Architecture Mapping data.

ABSTRACT: Genome Architecture Mapping (GAM) was recently introduced as a digestion- and ligation-free method to detect chromatin conformation. Orthogonal to existing approaches based on chromatin conformation capture (3C), GAM's ability to capture both inter- and intra-chromosomal contacts from low amounts of input data makes it particularly well suited for allele-specific analyses in a clinical setting. Allele-specific analyses are powerful tools to investigate the effects of genetic variants on many cellular phenotypes including chromatin conformation, but require the haplotypes of the individuals under study to be known a-priori. So far however, no algorithm exists for haplotype reconstruction and phasing of genetic variants from GAM data, hindering the allele-specific analysis of chromatin conta

SUBMITTER: Markowski J 

PROVIDER: S-EPMC8504635 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature