Evidence map›Paper›PMID 22125220›Full record

ArticleGenetic epidemiology2011

Haplotype variation and genotype imputation in African populations.

Lucy Huang, Mattias Jakobsson, Trevor J Pemberton, Muntaser Ibrahim, Thomas Nyambo, Sabah Omar, Jonathan K Pritchard, Sarah A Tishkoff, Noah A Rosenberg

Abstract read
In one paragraph

Article in Genetic epidemiology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed, 1 pooled it
3.6field-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, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.

  1. Pooled it
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  8. Review
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  12. Linkage disequilibrium matches forensic genetic records to disjoint genomic marker sets.Proceedings of the National Academy of Sciences of the United States of America · 2017
    Article
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  16. Review
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  18. Imputation-based assessment of next generation rare exome variant arrays.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2014
    Article
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  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

9 authors at 8 institutions in 5 countries.

Lucy HuangCenter for Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
Mattias Jakobsson
Trevor J Pemberton
Muntaser Ibrahim
Thomas Nyambo
Sabah Omar
Jonathan K Pritchard
Sarah A Tishkoff
Noah A Rosenberg
Stanford University · USKenya Medical Research Institute · KEMuhimbili University of Health and Allied Sciences · TZUniversity of Chicago · USUniversity of Khartoum · SDUniversity of Michigan–Ann Arbor · USUniversity of Pennsylvania · USUppsala University · SE

Funding

Population genetics for large-scale sequencing studies of diverse populationsR01HG005855 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Noah Rosenberg, Paul A Scheet · 2010 to 2026
$5.8M
African Odyssey: An Integrative Genomics Analysis of Complex Physiologic TraitsDP1OD006445 · OD · UNIVERSITY OF PENNSYLVANIA · PI TISHKOFF, SARAH ANNE · 2009 to 2011
$2.4M
Population-Genetic Studies for Association MappingR01GM081441 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ROSENBERG, NOAH · 2007 to 2011
$1.7M
African Odyssey: An Integrative Genomics Analysis of Complex Physiologic TraitsDP1ES022577 · NIEHS · UNIVERSITY OF PENNSYLVANIA · PI TISHKOFF, SARAH ANNE · 2012 to 2013
$1.6M
Variation at Malaria Resistance Genes in AfricansR01GM076637 · NIGMS · UNIV OF MARYLAND, COLLEGE PARK · PI TISHKOFF, SARAH ANNE · 2006 to 2009
$1.2M
Howard Hughes Medical InstituteNHGRI NIH HHS R01 HG005855NIEHS NIH HHS DP1 ES022577NIGMS NIH HHS R01 GM076637NIGMS NIH HHS R01 GM081441NIH HHS DP-1-OD-006445NIH HHS DP1 OD006445
6 · The paper itself

Abstract

Sub-Saharan Africa has been identified as the part of the world with the greatest human genetic diversity. This high level of diversity causes difficulties for genome-wide association (GWA) studies in African populations-for example, by reducing the accuracy of genotype imputation in African populations compared to non-African populations. Here, we investigate haplotype variation and imputation in Africa, using 253 unrelated individuals from 15 Sub-Saharan African populations. We identify the populations that provide the greatest potential for serving as reference panels for imputing genotypes in the remaining groups. Considering reference panels comprising samples of recent African descent in Phase 3 of the HapMap Project, we identify mixtures of reference groups that produce the maximal imputation accuracy in each of the sampled populations. We find that optimal HapMap mixtures and maximal imputation accuracies identified in detailed tests of imputation procedures can instead be predicted by using simple summary statistics that measure relationships between the pattern of genetic variation in a target population and the patterns in potential reference panels. Our results provide an empirical basis for facilitating the selection of reference panels in GWA studies of diverse human populations, especially those of African ancestry.

Indexed as

HaplotypesLinkage DisequilibriumAfrica South of the SaharaBlack PeopleGenetics, PopulationGenetic VariationGenome-Wide Association StudyGenotypeHapMap ProjectHumansPolymorphism, Single Nucleotide

Identifiers

PMID22125220
PMCPMC3568705
OpenAlexW2067254894

What OpenQuestion holds

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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.