Summary: An increasing number of phased (i.e. with resolved haplotypes) reference genomes are available. However, the most genetic variant calling tools do not explicitly account for haplotype structure. Here, we present HaploTypo, a pipeline tailored to resolve haplotypes in genetic variation analyses. HaploTypo infers the haplotype correspondence for each heterozygous variant called on a phased reference genome.
Availability And Implementation: HaploTypo is implemented in Python 2.7 and Python 3.5, and is freely available at https://github.com/gabaldonlab/haplotypo, and as a Docker image.
Supplementary Information: Supplementary data are available at Bioinformatics online.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7178392 | PMC |
http://dx.doi.org/10.1093/bioinformatics/btz933 | DOI Listing |
Bioinformatics
April 2020
Centre for Genomic Regulation, The Barcelona Institute of Science and Technology, Barcelona 08003, Spain.
Summary: An increasing number of phased (i.e. with resolved haplotypes) reference genomes are available.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!