Evidence map›Paper›PMID 23405914›Full record

ArticleBMC genomics2013

AMY-tree: an algorithm to use whole genome SNP calling for Y chromosomal phylogenetic applications.

Anneleen Van Geystelen, Ronny Decorte, Maarten H D Larmuseau

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Article in BMC genomics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

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28citing papers in PubMed
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3 · Its place in the literature

Who cites it

28 citing papers in PubMed.

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  14. Origin and dynamics of admixture in Brazilians and its effect on the pattern of deleterious mutations.Proceedings of the National Academy of Sciences of the United States of America · 2015
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4 · The record

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5 · Who and what money

Authors and funding

3 authors.

Anneleen Van GeystelenUZ Leuven, Laboratory of Forensic Genetics and Molecular Archaeology, Leuven, Belgium.
Ronny Decorte
Maarten H D Larmuseau

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundDue to the rapid progress of next-generation sequencing (NGS) facilities, an explosion of human whole genome data will become available in the coming years. These data can be used to optimize and to increase the resolution of the phylogenetic Y chromosomal tree. Moreover, the exponential growth of known Y chromosomal lineages will require an automatic determination of the phylogenetic position of an individual based on whole genome SNP calling data and an up to date Y chromosomal tree.

resultsWe present an automated approach, 'AMY-tree', which is able to determine the phylogenetic position of a Y chromosome using a whole genome SNP profile, independently from the NGS platform and SNP calling program, whereby mistakes in the SNP calling or phylogenetic Y chromosomal tree are taken into account. Moreover, AMY-tree indicates ambiguities within the present phylogenetic tree and points out new Y-SNPs which may be phylogenetically relevant. The AMY-tree software package was validated successfully on 118 whole genome SNP profiles of 109 males with different origins. Moreover, support was found for an unknown recurrent mutation, wrong reported mutation conversions and a large amount of new interesting Y-SNPs.

conclusionsTherefore, AMY-tree is a useful tool to determine the Y lineage of a sample based on SNP calling, to identify Y-SNPs with yet unknown phylogenetic position and to optimize the Y chromosomal phylogenetic tree in the future. AMY-tree will not add lineages to the existing phylogenetic tree of the Y-chromosome but it is the first step to analyse whole genome SNP profiles in a phylogenetic framework.

Indexed as

AlgorithmsPhylogenyPolymorphism, Single NucleotideSoftwareAllelesChromosomes, Human, YGenomicsHaplotypesHumansMale

Identifiers

PMID23405914
PMCPMC3583733

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.