HaploGrouper: a generalized approach to haplogroup classification
HaploGrouper: a generalized approach to haplogroup classification
Anuradha Jagadeesan,Anuradha Jagadeesan,7 Authors,Agnar Helgason
2020 · DOI: 10.1093/bioinformatics/btaa729
29 Citations
TLDR
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.
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
The software is available at the following URL https://gitlab.com/bio_anth_decode/haploGrouper.SUPPLEMENTARY INFORMATION
Supplementary data are available at Bioinformatics online.