GAMIBHEAR: whole-genome haplotype reconstruction from Genome Architecture Mapping data
Author(s) -
Julia Markowski,
Rieke Kempfer,
Alexander Kukalev,
Ibai Irastorza-Azcárate,
Gesa Loof,
Birte Kehr,
Ana Pombo,
Sven Rahmann,
Roland F. Schwarz
Publication year - 2021
Publication title -
bioinformatics
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btab238
Subject(s) - haplotype , chromatin , computational biology , genome , biology , genetics , computer science , allele , data mining , gene
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 contact points in non-model organisms or individuals with unknown haplotypes.
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