Literature DB >> 32805011

HaploGrouper: a generalized approach to haplogroup classification.

Anuradha Jagadeesan1,2, S Sunna Ebenesersdóttir1,2, Valdis B Guðmundsdóttir1,2, Elisabet Linda Thordardottir1, Kristjan H S Moore1, Agnar Helgason1,2.   

Abstract

MOTIVATION: We introduce HaploGrouper, a versatile software to classify haplotypes into haplogroups on the basis of a known phylogenetic tree. A typical use case for this software is the assignment of haplogroups to human mitochondrial DNA (mtDNA) or Y-chromosome haplotypes. Existing state-of-the-art haplogroup-calling software is typically hard-wired to work only with either mtDNA or Y-chromosome haplotypes from humans.
RESULTS: HaploGrouper exhibits comparable accuracy in these instances and has the advantage of being able to assign haplogroups to any kind of haplotypes from any species-given an extant annotated phylogenetic tree defined by sequence variants.
AVAILABILITY AND IMPLEMENTATION: The software is available at the following URL https://gitlab.com/bio_anth_decode/haploGrouper. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
© The Author(s) 2020. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Entities:  

Year:  2021        PMID: 32805011     DOI: 10.1093/bioinformatics/btaa729

Source DB:  PubMed          Journal:  Bioinformatics        ISSN: 1367-4803            Impact factor:   6.937


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