Evidence map›Paper›PMID 24836452›Full record

ArticleAmerican journal of human genetics2014

Contrasting X-linked and autosomal diversity across 14 human populations.

Leonardo Arbiza, Srikanth Gottipati, Adam Siepel, Alon Keinan

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.

0numbers the graph read from it
0cells of the map it votes in
45citing papers in PubMed
6.8field-weighted citation impact, top 3% 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

45 citing papers in PubMed, 72 citations in OpenAlex.

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  6. Forward and backward modeling of cultural evolutionary processes.Proceedings of the National Academy of Sciences of the United States of America · 2024
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  14. Genetic diversity estimates for themicroPublication biology · 2022
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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

4 authors at 1 institution in 1 country.

Leonardo ArbizaDepartment of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY 14853, USA.
Srikanth GottipatiDepartment of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY 14853, USA.
Adam SiepelDepartment of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY 14853, USA.
Alon KeinanDepartment of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY 14853, USA. Electronic address: ak735@cornell.edu.
Cornell University · US

Funding

The X-factor of complex disease: From population genetics to GWAS of Chromosome XR01HG006849 · NHGRI · CORNELL UNIVERSITY · PI CLARK, ANDREW G · 2013 to 2020
$2.3M
Computational methods for human genomic data integration: demography, selection,R01GM102192 · NIGMS · CORNELL UNIVERSITY · PI SIEPEL, ADAM CHARLES · 2013 to 2017
$1.7M
Population Structure Admixture and Selection across the 1000 Genomes Data SetU01HG005715 · NHGRI · STANFORD UNIVERSITY · PI BUSTAMANTE, CARLOS DANIEL, CLARK, ANDREW G · 2010 to 2012
$1.1M
NHGRI NIH HHS R01 HG006849NHGRI NIH HHS R01-HG006849NHGRI NIH HHS U01 HG005715NHGRI NIH HHS U01-HG005715NIGMS NIH HHS R01 GM102192NIGMS NIH HHS R01-GM102192
6 · The paper itself

Abstract

Contrasting the genetic diversity of the human X chromosome (X) and autosomes has facilitated understanding historical differences between males and females and the influence of natural selection. Previous studies based on smaller data sets have left questions regarding how empirical patterns extend to additional populations and which forces can explain them. Here, we address these questions by analyzing the ratio of X-to-autosomal (X/A) nucleotide diversity with the complete genomes of 569 females from 14 populations. Results show that X/A diversity is similar within each continental group but notably lower in European (EUR) and East Asian (ASN) populations than in African (AFR) populations. X/A diversity increases in all populations with increasing distance from genes, highlighting the stronger impact of diversity-reducing selection on X than on the autosomes. However, relative X/A diversity (between two populations) is invariant with distance from genes, suggesting that selection does not drive the relative reduction in X/A diversity in non-Africans (0.842 ± 0.012 for EUR-to-AFR and 0.820 ± 0.032 for ASN-to-AFR comparisons). Finally, an array of models with varying population bottlenecks, expansions, and migration from the latest studies of human demographic history account for about half of the observed reduction in relative X/A diversity from the expected value of 1. They predict values between 0.91 and 0.94 for EUR-to-AFR comparisons and between 0.91 and 0.92 for ASN-to-AFR comparisons. Further reductions can be predicted by more extreme demographic events in excess of those captured by the latest studies but, in the absence of these, also by historical sex-biased demographic events or other processes.

Indexed as

Genetics, PopulationPolymorphism, Single NucleotideChromosomes, Human, XComputer SimulationFemaleGenes, X-LinkedGenome, HumanHumansModels, MolecularSelection, GeneticWhite People

Identifiers

PMID24836452
PMCPMC4121480
OpenAlexW2082745692

What OpenQuestion holds

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Registered trials

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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.