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Placing ancient DNA sequences into reference phylogenies

Martiniano, R, De Sanctis, B, Hallast, P and Durbin, R (2022) Placing ancient DNA sequences into reference phylogenies. Molecular Biology and Evolution. ISSN 0737-4038

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Open Access URL: https://doi.org/10.1093/molbev/msac017 (Published version)


Joint phylogenetic analysis of ancient DNA (aDNA) with modern phylogenies is hampered by low sequence coverage and post-mortem deamination, often resulting in over-conservative or incorrect assignment. We provide a new efficient likelihood-based workflow, pathPhynder, that takes advantage of all the polymorphic sites in the target sequence. This effectively evaluates the number of ancestral and derived alleles present on each branch and reports the most likely placement of an ancient sample in the phylogeny and a haplogroup assignment, together with alternatives and supporting evidence. To illustrate the application of pathPhynder, we show improved Y chromosome assignments for published ancient DNA sequences, using a newly compiled Y variation dataset (120,908 markers from 2,014 samples) that significantly enhances Y haplogroup assignment for low coverage samples. We apply the method to all published male ancient DNA samples from Africa, giving new insights into ancient migrations and the relationships between ancient and modern populations. The same software can be used to place samples with large amounts of missing data into other large non-recombining phylogenies such as the mitochondrial tree.

Item Type: Article
Uncontrolled Keywords: 0601 Biochemistry and Cell Biology, 0603 Evolutionary Biology, 0604 Genetics
Subjects: Q Science > QH Natural history > QH426 Genetics
Divisions: Biological & Environmental Sciences (from Sep 19)
Publisher: Oxford University Press (OUP)
Date Deposited: 16 Feb 2022 11:53
Last Modified: 16 Feb 2022 12:00
DOI or ID number: 10.1093/molbev/msac017
URI: https://researchonline.ljmu.ac.uk/id/eprint/16309
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