Evidence map›Paper›PMID 34741098›Full record

ArticleCommunications biology2021

A population-specific reference panel for improved genotype imputation in African Americans.

Jared O'Connell, Taedong Yun, Meghan Moreno, Helen Li, Nadia Litterman, Alexey Kolesnikov, Elizabeth Noblin, Pi-Chuan Chang, Anjali Shastri, Elizabeth H Dorfman and 5 more

Open access · goldAbstract read
In one paragraph

Article in Communications biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed
9.5field-weighted citation impact, top 1% 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

38 citing papers in PubMed, 69 citations in OpenAlex.

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  11. Down syndrome in Africa: Challenges, opportunities, and future directions.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
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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 2 institutions in 1 country.

Jared O'Connell *23andMe, Inc., Sunnyvale, CA, USA.ORCID 0000-0003-3427-0466
Taedong Yun *Google Health, Cambridge, MA, USA.ORCID 0000-0002-6242-5536
Meghan Moreno23andMe, Inc., Sunnyvale, CA, USA.
Helen LiGoogle Health, Cambridge, MA, USA.
Nadia Litterman23andMe, Inc., Sunnyvale, CA, USA.
Alexey KolesnikovGoogle Health, Palo Alto, CA, USA.
Elizabeth Noblin23andMe, Inc., Sunnyvale, CA, USA.
Pi-Chuan ChangGoogle Health, Palo Alto, CA, USA.ORCID 0000-0003-3021-6446
Anjali Shastri23andMe, Inc., Sunnyvale, CA, USA.
Elizabeth H DorfmanGoogle Health, Palo Alto, CA, USA.
Suyash Shringarpure23andMe, Inc., Sunnyvale, CA, USA.ORCID 0000-0001-6464-2668
23andMe Research Team
Adam Auton23andMe, Inc., Sunnyvale, CA, USA. aauton@23andme.com.ORCID 0000-0002-1630-1225
Andrew CarrollGoogle Health, Palo Alto, CA, USA. awcarroll@google.com.ORCID 0000-0002-4824-6689
Cory Y McLeanGoogle Health, Cambridge, MA, USA. cym@google.com.ORCID 0000-0001-9928-8216
23andMe (United States) · USGoogle (United States) · US

Funding

New York Center for Collaborative Research In Common Disease Genomics: Genome Aggregation and Joint Variant Calling for CCDG Freeze2UM1HG008901 · NHGRI · NEW YORK GENOME CENTER · PI MANIATIS, THOMAS P, WIGLER, MICHAEL H · 2016 to 2020
$56.6M
A new reference panel to boost African American genotype imputationR44HG009460 · NHGRI · 23ANDME, INC. · PI AUTON, ADAM · 2016 to 2016
$1.8M
NHGRI NIH HHS R44 HG009460NHGRI NIH HHS UM1 HG008901
6 · The paper itself

Abstract

There is currently a dearth of accessible whole genome sequencing (WGS) data for individuals residing in the Americas with Sub-Saharan African ancestry. We generated whole genome sequencing data at intermediate (15×) coverage for 2,294 individuals with large amounts of Sub-Saharan African ancestry, predominantly Atlantic African admixed with varying amounts of European and American ancestry. We performed extensive comparisons of variant callers, phasing algorithms, and variant filtration on these data to construct a high quality imputation panel containing data from 2,269 unrelated individuals. With the exception of the TOPMed imputation server (which notably cannot be downloaded), our panel substantially outperformed other available panels when imputing African American individuals. The raw sequencing data, variant calls and imputation panel for this cohort are all freely available via dbGaP and should prove an invaluable resource for further study of admixed African genetics.

Indexed as

Genome, HumanGenotypeAdultAgedAged, 80 and overBlack or African AmericanHumansMiddle AgedUnited StatesWhole Genome SequencingYoung Adult

Identifiers

PMID34741098
PMCPMC8571350
OpenAlexW3210184467

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.