Benchmarking of human Y-chromosomal haplogroup classifiers with whole-genome and whole-exome sequence data.

ABSTRACT: In anthropological, medical, and forensic studies, the nonrecombinant region of the human Y chromosome (NRY) enables accurate reconstruction of pedigree relationships and retrieval of ancestral information. Using high-throughput sequencing (HTS) data, we present a benchmarking analysis of command-line tools for NRY haplogroup classification. The evaluation was performed using paired Illumina data from whole-genome sequencing (WGS) and whole-exome sequencing (WES) experiments from 50 unrelated donors. Additionally, as a validation, we also used paired WGS/WES datasets of 54 individuals from the 1000 Genomes Project. Finally, we evaluated the tools on data from third-generation HTS obtained from a subset of donors and one reference sample. Our results show that WES, despite typically offerin

SUBMITTER: Garcia-Olivares V 

PROVIDER: S-EPMC10560978 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature