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Using Phylogenetic Analysis to Investigate Eukaryotic Gene Origin
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Placing Ancient DNA Sequences into Reference Phylogenies.

Rui Martiniano1,2, Bianca De Sanctis1,3, Pille Hallast4,5

  • 1Department of Genetics, University of Cambridge, Cambridge, United Kingdom.

Molecular Biology and Evolution
|January 27, 2022
PubMed
Summary
This summary is machine-generated.

We developed pathPhynder, a new workflow for analyzing ancient DNA (aDNA). It improves phylogenetic placement and haplogroup assignment for ancient samples, even with low-quality data.

Keywords:
Y chromosome haplogroupsancient DNAphylogenetic placement

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Area of Science:

  • Ancient DNA analysis
  • Population genetics
  • Phylogenetics

Background:

  • Analyzing ancient DNA (aDNA) alongside modern phylogenies is challenging due to low sequence coverage and DNA damage.
  • Existing methods can lead to inaccurate or overly cautious phylogenetic assignments.
  • Accurate placement of ancient samples is crucial for understanding population history.

Purpose of the Study:

  • To introduce pathPhynder, an efficient likelihood-based workflow for improved ancient DNA phylogenetic analysis.
  • To enhance the accuracy of haplogroup assignment for ancient samples, particularly those with low sequence coverage.
  • To provide insights into ancient human migrations and population relationships using aDNA data.

Main Methods:

  • Developed pathPhynder, a novel workflow utilizing all polymorphic sites in target sequences.
  • Implemented a likelihood-based approach to evaluate ancestral and derived alleles on phylogenetic branches.
  • Compiled a comprehensive Y chromosome variation dataset (120,908 markers from 2,014 samples) for improved haplogroup assignment.

Main Results:

  • pathPhynder demonstrated improved Y chromosome haplogroup assignments for published aDNA sequences.
  • The workflow effectively places ancient samples in phylogenies, providing likely assignments and supporting evidence.
  • Application to African aDNA revealed new insights into ancient migrations and population dynamics.

Conclusions:

  • pathPhynder offers an efficient and accurate method for analyzing ancient DNA phylogenetics and haplogroup assignment.
  • The workflow significantly enhances the utility of low-coverage aDNA data for population genetics studies.
  • This approach provides valuable tools for exploring ancient human history and population connections.