HaploTypo: a variant-calling pipeline for phased genomes

Author:

Pegueroles Cinta1,Mixão Verónica1,Carreté Laia1,Molina Manu1,Gabaldón Toni123ORCID

Affiliation:

1. Centre for Genomic Regulation, The Barcelona Institute of Science and Technology, Barcelona 08003, Spain

2. Universitat Pompeu Fabra (UPF), Barcelona, Spain

3. ICREA, Barcelona 08010, Spain

Abstract

Abstract 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.

Funder

European Union’s Horizon 2020

Spanish Ministry of Economy, Industry, and Competitiveness

European Regional Development Fund

Catalan Research Agency

Publisher

Oxford University Press (OUP)

Subject

Computational Mathematics,Computational Theory and Mathematics,Computer Science Applications,Molecular Biology,Biochemistry,Statistics and Probability

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