Evidence map›Paper›PMID 29706352›Full record

ArticleAmerican journal of human genetics2018

Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana.

Gaone Retshabile, Busisiwe C Mlotshwa, Lesedi Williams, Savannah Mwesigwa, Gerald Mboowa, Zhuoyi Huang, Navin Rustagi, Shanker Swaminathan, Eric Katagirya, Samuel Kyobe and 20 more

Abstract read
In one paragraph

Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing 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

32 citing papers in PubMed.

  1. Article
  2. BeyondFrontiers in genetics · 2026
    Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Advances in integrative African genomics.Trends in genetics : TIG · 2022
    Review
  14. Article
  15. Review
  16. Review
  17. Article
  18. Functional Characterisation of Three GlycineInternational journal of molecular sciences · 2021
    Article
  19. Article
  20. 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

30 authors.

Gaone RetshabileDepartment of Biological Sciences, University of Botswana, Gaborone, Botswana.
Busisiwe C MlotshwaDepartment of Biological Sciences, University of Botswana, Gaborone, Botswana.
Lesedi WilliamsDepartment of Biological Sciences, University of Botswana, Gaborone, Botswana.
Savannah MwesigwaDepartment of Medical Microbiology, College of Health Sciences, Makerere University, Kampala, Uganda.
Gerald MboowaDepartment of Medical Microbiology, College of Health Sciences, Makerere University, Kampala, Uganda; Department of Immunology and Molecular Biology, College of Health Sciences, Makerere University, Kampala, Uganda.
Zhuoyi HuangHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Navin RustagiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Shanker SwaminathanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; USDA/ARS/Children's Nutrition Research Center, Baylor College of Medicine, Houston, TX 77030, USA.
Eric KatagiryaDepartment of Medical Microbiology, College of Health Sciences, Makerere University, Kampala, Uganda.
Samuel KyobeDepartment of Medical Microbiology, College of Health Sciences, Makerere University, Kampala, Uganda.
Misaki WayengeraDepartment of Immunology and Molecular Biology, College of Health Sciences, Makerere University, Kampala, Uganda.
Grace P KisituBaylor College of Medicine Children's Foundation, Kampala, Uganda.
David P KateeteDepartment of Medical Microbiology, College of Health Sciences, Makerere University, Kampala, Uganda; Department of Immunology and Molecular Biology, College of Health Sciences, Makerere University, Kampala, Uganda.
Eddie M WampandeDepartment of Medical Microbiology, College of Health Sciences, Makerere University, Kampala, Uganda; Department of Bio-molecular Resources, College of Veterinary Medicine, Makerere University, Kampala, Uganda.
Koketso MaplankaDepartment of Biological Sciences, University of Botswana, Gaborone, Botswana.
Ishmael KasvosveDepartment of Medical Laboratory Sciences, University of Botswana, Gaborone, Botswana.
Edward D PettittBotswana-Baylor Children's Clinical Centre of Excellence, Gaborone, Botswana.
Mogomotsi MatshabaBotswana-Baylor Children's Clinical Centre of Excellence, Gaborone, Botswana; Pediatric Retrovirology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Betty NsangiBaylor College of Medicine Children's Foundation, Kampala, Uganda.
Marape MarapeBotswana-Baylor Children's Clinical Centre of Excellence, Gaborone, Botswana.
Masego Tsimako-JohnstoneDepartment of Biological Sciences, University of Botswana, Gaborone, Botswana.
Chester W BrownDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; University of Tennessee Health Science Center, Memphis, TN 38105, USA.
Fuli YuHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Adeodata KekitiinwaBaylor College of Medicine Children's Foundation, Kampala, Uganda; Pediatric Retrovirology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Moses JolobaDepartment of Medical Microbiology, College of Health Sciences, Makerere University, Kampala, Uganda.
Sununguko W MpolokaDepartment of Biological Sciences, University of Botswana, Gaborone, Botswana.
Graeme MardonDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030, USA.
Gabriel AnabwaniBotswana-Baylor Children's Clinical Centre of Excellence, Gaborone, Botswana; Pediatric Retrovirology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Neil A HanchardDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; USDA/ARS/Children's Nutrition Research Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: hanchard@bcm.edu.
Collaborative African Genomics Network (CAfGEN) of the H3Africa Consortium

Funding

Phenotyping and BioarchivingU54AI110398 · NIAID · BOTSWANA BAYLOR CHILD/CLINCAL CTR/EXCELL · PI MATSHABA, MOGOMOTSI SANDY · 2014 to 2021
$8.9M
Doris Duke Charitable Foundation 2013096NIAID NIH HHS U54 AI110398
6 · The paper itself

Abstract

Large-scale, population-based genomic studies have provided a context for modern medical genetics. Among such studies, however, African populations have remained relatively underrepresented. The breadth of genetic diversity across the African continent argues for an exploration of local genomic context to facilitate burgeoning disease mapping studies in Africa. We sought to characterize genetic variation and to assess population substructure within a cohort of HIV-positive children from Botswana-a Southern African country that is regionally underrepresented in genomic databases. Using whole-exome sequencing data from 164 Batswana and comparisons with 150 similarly sequenced HIV-positive Ugandan children, we found that 13%-25% of variation observed among Batswana was not captured by public databases. Uncaptured variants were significantly enriched (p = 2.2 × 10

Indexed as

Exome SequencingGenetic VariationBlack PeopleBotswanaCohort StudiesGene PoolGenetics, PopulationGenome, HumanGeographyHumansPhylogenyPrincipal Component AnalysisAfricaAIDSgenetic mappinggenomicsHIVpopulation genetics

Identifiers

PMID29706352
PMCPMC5986695

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.