Evidence map›Paper›PMID 34245420›Full record

ArticleGenes & genomics2021

Estimating the age of single nucleotide polymorphic sites in humans.

Branko Borštnik, Danilo Pumpernik

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Article in Genes & genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

2 authors.

Branko BorštnikNational Institute of Chemistry, Ljubljana, Slovenia. branko.borstnik@ki.si.ORCID 0000-0002-1439-195X
Danilo PumpernikNational Institute of Chemistry, Ljubljana, Slovenia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundDetermining the ages of polymorphic sites in human genomes needs to be carried out in a careful balance between the degree of complexity of the approach and the desired accuracy.

objectiveWe provide evidence that a simpler approach where age determination is based upon the degree to which the alternative allele is spread among the population can be competitive with more complex methods.

methodsThe information contained in the vcf files of Phase 1 of the 1000 Genomes Project combined with the genomic sequences of seven non-human primate species was analyzed. The analyses were supplemented by a computer simulation of the mutational changes in 10,000 model chromosomes with a length of 10,000 nucleotides over a period of 16 million years. The list of the birth dates of the derived alleles of homozygous and heterozygous components of the derived alleles served as a yardstick to estimate the ages of human alternative alleles.

resultsThe age of the derived alleles born in Africa before the "Out of Africa" event and not brought to other continents are estimated to be 0.17 Ma, the derived alleles present simultaneously on all continents are estimated to be 1.3 Ma old and the age of alleles arising in Europe or Asia is 0.06 Ma.

conclusionOur approach functions with polymorphisms that respect the "more frequent means older" principle. However, this shortcoming only leads to disagreement with the Atlas of Variant Age in about 20% of cases.

Indexed as

Computer SimulationEvolution, MolecularPolymorphism, Single NucleotideHumansDerived allele ageDerived allele frequenciesHomo sapiensNucleotide replacements

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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.