Evidence map›Paper›PMID 41667478›Full record

ArticleNature communications2026

A catalogue of early diverged contemporary human genome variation reveals distinct Khoe-San populations.

Weerachai Jaratlerdsiri, Pamela X Y Soh, Tingting Gong, Jue Jiang, Zolani Simayi, Desiree C Petersen, Errol Holland, Eva K F Chan, Kathrine E Theron, Wilfrid H G Haacke and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
  2. Article
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.

Weerachai JaratlerdsiriAncestry and Health Genomics Laboratory, Charles Perkins Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Camperdown, New South Wales, Australia. weerachai.jaratlerdsiri@sydney.edu.au.ORCID 0000-0001-9100-1807
Pamela X Y SohAncestry and Health Genomics Laboratory, Charles Perkins Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Camperdown, New South Wales, Australia.ORCID 0000-0002-8485-6556
Tingting GongAncestry and Health Genomics Laboratory, Charles Perkins Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Camperdown, New South Wales, Australia.ORCID 0000-0001-5907-2445
Jue JiangAncestry and Health Genomics Laboratory, Charles Perkins Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Camperdown, New South Wales, Australia.ORCID 0000-0003-0920-8310
Zolani SimayiFaculty of Health Sciences, University of Limpopo, Mankweng, South Africa.
Desiree C PetersenSouth African Medical Research Council Centre for Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.ORCID 0000-0002-0817-2574
Errol HollandFormerly from Faculty of Medicine, Sefako Makgatho Health Sciences University, Pretoria, South Africa.
Eva K F ChanStatewide Genomics, NSW Health Pathology, Newcastle, New South Wales, Australia.ORCID 0000-0002-6104-3763
Kathrine E TheronFaculty of Health Sciences, University of Limpopo, Mankweng, South Africa.
Wilfrid H G HaackeFormerly from the Department of Language and Literature Studies, University of Namibia, Windhoek, Namibia.
Hagen E A FörtschWindhoek Central Hospital, University of Namibia, Windhoek Khomas, Namibia.
M S Riana BornmanSchool of Health Systems and Public Health, University of Pretoria, Pretoria, Gauteng, South Africa.ORCID 0000-0003-3975-2333
David M ThomasCentre for Molecular Oncology, School of Biomedical Sciences, University of New South Wales Sydney, Randwick, New South Wales, Australia.
Jeffrey MphahleleDepartment of Virology, National Health Laboratory Service and Sefako Makgatho Health Sciences University, Pretoria, South Africa.
Vanessa M HayesAncestry and Health Genomics Laboratory, Charles Perkins Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Camperdown, New South Wales, Australia. vanessa.hayes@sydney.edu.au.ORCID 0000-0002-4524-7280

Funding

Garvan Institute of Medical Research (Garvan Institute) ThomasGenomics Health Futures MissionPetre Foundation Petre ChairUnited States Department of Defense | United States Army | Army Medical Command | Congressionally Directed Medical Research Programs (CDMRP) PC210168, PC230673
6 · The paper itself

Abstract

Creating a catalogue of early diverged genome variation is critical to determine the true extent of human diversity and associated medical impact. Generating deep whole genome data for 150 Khoe-San (12 groups, 1 unclassified), and 40 regionally comparative Southern Africans (3 groups), we identify ~30 million small-to-large variants - over 1.3 million unknown single nucleotide variants. Representing shared traditionally forager lifestyles and click-speaking languages, we identify San and Damara as separate phylogenetic lineages, contributing two admixture waves to Nama. While San represented modern humans' deep divergence (~115 thousand years ago), Damara divergence is recent, with both showing high effective population sizes between 45-150 thousand years ago. Developing an assembly-based test we report 1,376 genes under positive selection (dN/dS = 19.46) of which 479 are significantly associated with forager peoples and, therefore, maintained ancestral alleles that differ from derived genetic variation observed in non-African biomedical resources.

Indexed as

Genetic VariationGenome, HumanGenetics, PopulationHumansPhylogenyPolymorphism, Single NucleotideSelection, GeneticSouthern African People

Identifiers

PMID41667478
PMCPMC13000244

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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.