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Although all next-generation methods use different technologies, they all share a set of standard features....
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Y-LineageTracker: a high-throughput analysis framework for Y-chromosomal next-generation sequencing data.

Hao Chen1, Yan Lu1,2, Dongsheng Lu1

  • 1Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, 200031, China.

BMC Bioinformatics
|March 22, 2021
PubMed
Summary

Y-LineageTracker is a new bioinformatics tool for analyzing Y-chromosome DNA (Y-DNA) from next-generation sequencing (NGS) data. It accurately determines paternal lineages, haplogroups, and microsatellite variants for evolutionary studies.

Keywords:
NGSNRY haplogroupPopulation geneticsY-STRY-chromosome DNA

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Area of Science:

  • Genetics
  • Bioinformatics
  • Population Genetics

Background:

  • Y-chromosome DNA (Y-DNA) is crucial for tracing paternal lineages.
  • Next-generation sequencing (NGS) enhances Y-DNA analysis resolution.
  • Existing computational tools are insufficient for NGS-based Y-DNA studies.

Purpose of the Study:

  • To develop a comprehensive bioinformatics framework for Y-DNA analysis using NGS data.
  • To automate the determination of non-recombining region of the Y-chromosome (NRY) haplogroups and Y-STR variants.
  • To provide robust interpretations for paternal genetics and evolutionary insights.

Main Methods:

  • Development of Y-LineageTracker, a high-throughput analysis framework.
  • Integration of NRY haplogroup classification, clustering, phylogeny, and divergence time estimation.
  • Incorporation of Y-STR genotyping, statistical analysis, network analysis, and TMRCA estimation.

Main Results:

  • Y-LineageTracker automatically determines NRY haplogroups and Y-STR variants with high resolution.
  • The tool integrates modules for comprehensive Y-DNA analysis, including paternal genetics and evolution.
  • Comparative analysis shows Y-LineageTracker outperforms existing tools in performance and visualization.

Conclusions:

  • Y-LineageTracker is an open-source, user-friendly command-line tool for Y-DNA analysis from NGS data.
  • It supports both Y-SNP and Y-STR analysis, various input formats, and produces publication-quality figures.
  • The tool is compatible with Windows, Linux, and macOS, with freely available source code and documentation.