Evidence map›Paper›PMID 19737746›Full record

ArticleGenetics2009

Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation.

Yali Xue, Xuelong Zhang, Ni Huang, Allan Daly, Christopher J Gillson, Daniel G Macarthur, Bryndis Yngvadottir, Alexandra C Nica, Cara Woodwark, Yuan Chen and 5 more

Open access · bronzeAbstract read
In one paragraph

Article in Genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed
3.3field-weighted citation impact, top 7% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

30 citing papers in PubMed, 57 citations in OpenAlex.

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  7. Sequence diversity of the Rh blood group system in Basques.European journal of human genetics : EJHG · 2018
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 4 institutions in 3 countries.

Yali XueThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, United Kingdom.
Xuelong Zhang
Ni Huang
Allan Daly
Christopher J Gillson
Daniel G Macarthur
Bryndis Yngvadottir
Alexandra C Nica
Cara Woodwark
Yuan Chen
Donald F Conrad
Qasim Ayub
S Qasim Mehdi
Pu Li
Chris Tyler-Smith
Wellcome Sanger Institute · GBHarbin Medical University · CNSindh Institute of Urology and Transplantation · PKWellcome Trust · GB

Funding

Wellcome Trust
6 · The paper itself

Abstract

We have evaluated the extent to which SNPs identified by genomewide surveys as showing unusually high levels of population differentiation in humans have experienced recent positive selection, starting from a set of 32 nonsynonymous SNPs in 27 genes highlighted by the HapMap1 project. These SNPs were genotyped again in the HapMap samples and in the Human Genome Diversity Project-Centre d'Etude du Polymorphisme Humain (HGDP-CEPH) panel of 52 populations representing worldwide diversity; extended haplotype homozygosity was investigated around all of them, and full resequence data were examined for 9 genes (5 from public sources and 4 from new data sets). For 7 of the genes, genotyping errors were responsible for an artifactual signal of high population differentiation and for 2, the population differentiation did not exceed our significance threshold. For the 18 genes with confirmed high population differentiation, 3 showed evidence of positive selection as measured by unusually extended haplotypes within a population, and 7 more did in between-population analyses. The 9 genes with resequence data included 7 with high population differentiation, and 5 showed evidence of positive selection on the haplotype carrying the nonsynonymous SNP from skewed allele frequency spectra; in addition, 2 showed evidence of positive selection on unrelated haplotypes. Thus, in humans, high population differentiation is (apart from technical artifacts) an effective way of enriching for recently selected genes, but is not an infallible pointer to recent positive selection supported by other lines of evidence.

Indexed as

Selection, GeneticAlcohol DehydrogenaseAntigens, CDCell Adhesion MoleculesDNA HelicasesDNA Repair EnzymesDuffy Blood-Group SystemEdar ReceptorGene FrequencyGenetics, PopulationGenetic VariationGenome, HumanGenotypeGuanine Nucleotide Exchange FactorsHaplotypesHumansACKR1 protein, humanADH1B protein, humanAlcohol DehydrogenaseAntigens, CDCD66 antigensCell Adhesion MoleculesDNA HelicasesDNA Repair EnzymesDuffy Blood-Group SystemEDAR protein, humanEdar ReceptorERCC6 protein, humanGNB1L protein, humanGuanine Nucleotide Exchange FactorsHERC1 protein, humanIntracellular Signaling Peptides and ProteinsPoly-ADP-Ribose Binding ProteinsReceptors, Cell SurfaceUbiquitin-Protein Ligases

Identifiers

PMID19737746
PMCPMC2778960
OpenAlexW2148014661

What OpenQuestion holds

Textmetadata
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Registered trials

None linked

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.