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Y-SNP Haplogroup Hierarchy Finder: a web tool for Y-SNP haplogroup assignment


The application of massively parallel sequencing (MPS) data from whole genomes has allowed very many more Y-SNP loci to be genotyped simultaneously than previously possible. Although this greatly increases the resolution of Y-SNP haplogroups to link common ancestors, it remains a great challenge to provide a phylogenetic tree to clearly display the relationship of varying haplogroups. Y-SNP Haplogroup Hierarchy Finder is a web tool to generate hierarchical haplogroups based on Y-SNP data with the derived allele at the terminal of a haplogroup tree. The input data can include that from whole-genome sequencing. Confidence in assignment using Y-SNP Haplogroup Hierarchy Finder was demonstrated using Y-SNP genotypes of 1233 samples, sourced from the 1000 genomes project phase 3, used to generate the expected haplogroups. The outcome includes 2 reports: a ‘Haplogroup Report’ lists mutation types from the submitted Y-SNPs and their corresponding haplogroups, and a ‘Haplogroup Hierarchy Report’ lists all possible hierarchical haplogroups and ranks the three most supported haplogroups. Each layer of the descending haplogroups from one step to the next is shown and the supporting numbers of Y-SNPs are also included in these reports. All haplogroups that exhibited a clear relationship between the ancestral through to the derived SNPs can be clustered into a hierarchy of haplogroups. The assigned 1233 haplogroups were compared with 2 other software programs designed to assemble haplogroups, which resulted in one where there were many differences and the other one where there was only minor difference. The advantage of this web-based tool is that it provides an easy way to assign Y-SNP haplogroup based on the visualized hierarchical pattern.

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We thank the Ministry of Science and Technology of Taiwan by a grant [MOST 107-2320-B-002-045-MY3] and the Taiwan Biobank for advising data analysis.

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BT conducted the creation of new software. HLH, CYL and YJY carried data analyses. AL and JCL designed the study and drafted the manuscript.

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Correspondence to James Chun-I Lee.

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The authors declare no competing interests.

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Supplementary information

Haplogroups detected by Y-Finder based on 1,233 samples taken from 1000 Genome Project


Y-SNP Haplogroup comparison between results reported by HaploGrouper,Y-LineageTracker and Y-Finder based on 1,233 samples taken from 1000 Genome Project

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Tseng, B., Hwa, HL., Lin, CY. et al. Y-SNP Haplogroup Hierarchy Finder: a web tool for Y-SNP haplogroup assignment. J Hum Genet 67, 487–493 (2022).

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