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Computational and Structural Biotechnology Journal
Article . 2023 . Peer-reviewed
License: CC BY
Data sources: Crossref
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PubMed Central
Article . 2023
License: CC BY
Data sources: PubMed Central
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UCL Discovery
Article . 2023
Data sources: UCL Discovery
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Benchmarking of human Y-chromosomal haplogroup classifiers with whole-genome and whole-exome sequence data

Authors: Víctor García-Olivares; Adrián Muñoz-Barrera; Luis A. Rubio-Rodríguez; David Jáspez; Ana Díaz-de Usera; Antonio Iñigo-Campos; Krishna R. Veeramah; +5 Authors

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 offering less genealogical resolution than WGS, is an effective method for determining the NRY haplogroup. Y-LineageTracker and Yleaf showed the highest accuracy for WGS data, classifying precisely 98% and 96% of the samples, respectively. Yleaf outperforms all benchmarked tools in the WES data, classifying approximately 90% of the samples. Yleaf, Y-LineageTracker, and pathPhynder can correctly classify most samples (88%) sequenced with third-generation HTS. As a result, Yleaf provides the best performance for applications that use WGS and WES. Overall, our study offers researchers with a guide that allows them to select the most appropriate tool to analyze the NRY region using both second- and third-generation HTS data.

Country
United Kingdom
Keywords

Y chromosome, Population genetics, NRY haplogroup classification, Comparative genomics, Next-generation sequencing, TP248.13-248.65, Biotechnology, Research Article

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selected citations
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This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
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