Haplogrep 3 - an interactive haplogroup classification and analysis platform.

ABSTRACT: Over the last decade, Haplogrep has become a standard tool for haplogroup classification in the field of human mitochondrial DNA and is widely used by medical, forensic, and evolutionary researchers. Haplogrep scales well for thousands of samples, supports many file formats and provides an intuitive graphical web interface. Nevertheless, the currently available version has limitations when applying it to large biobank-scale data. In this paper, we present a major upgrade to the software by adding (a) haplogroup summary statistics and variant annotations from various publicly available genome databases, (b) an interface to connect new phylogenetic trees, (c) a new state-of-the-art web framework managing large scale data, (d) algorithmic adaptions to improve FASTA classification using BWA-sp

SUBMITTER: Schonherr S 

PROVIDER: S-EPMC10320078 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature