Evidence map›Paper›PMID 34662886›Full record

ArticleNature2021

Exome sequencing and analysis of 454,787 UK Biobank participants.

Joshua D Backman, Alexander H Li, Anthony Marcketta, Dylan Sun, Joelle Mbatchou, Michael D Kessler, Christian Benner, Daren Liu, Adam E Locke, Suganthi Balasubramanian and 33 more

Open access · hybridAbstract read
In one paragraph

Article in Nature, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 656 papers, 10 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
656citing papers in PubMed, 10 pooled it
127.4field-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

656 citing papers in PubMed, 10 syntheses or guidelines pooled it, 1,014 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Pooled it
  6. Pooled it
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  10. Pooled it
  11. Trial
  12. Review
  13. Article
  14. Article
  15. medRxiv : the preprint server for health sciences · 2026
    Article
  16. Article
  17. Article
  18. AlphaGenome Atlas:medRxiv : the preprint server for health sciences · 2026
    Article
  19. Article
  20. Article

596 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

43 authors at 1 institution in 1 country.

Joshua D BackmanRegeneron Genetics Center, Tarrytown, NY, USA.
Alexander H LiRegeneron Genetics Center, Tarrytown, NY, USA.
Anthony MarckettaRegeneron Genetics Center, Tarrytown, NY, USA.
Dylan SunRegeneron Genetics Center, Tarrytown, NY, USA.
Joelle MbatchouRegeneron Genetics Center, Tarrytown, NY, USA.
Michael D KesslerRegeneron Genetics Center, Tarrytown, NY, USA.
Christian BennerRegeneron Genetics Center, Tarrytown, NY, USA.
Daren LiuRegeneron Genetics Center, Tarrytown, NY, USA.
Adam E LockeRegeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0001-6227-198X
Suganthi BalasubramanianRegeneron Genetics Center, Tarrytown, NY, USA.
Ashish YadavRegeneron Genetics Center, Tarrytown, NY, USA.
Nilanjana BanerjeeRegeneron Genetics Center, Tarrytown, NY, USA.
Christopher E GilliesRegeneron Genetics Center, Tarrytown, NY, USA.
Amy DamaskRegeneron Genetics Center, Tarrytown, NY, USA.
Simon LiuRegeneron Genetics Center, Tarrytown, NY, USA.
Xiaodong BaiRegeneron Genetics Center, Tarrytown, NY, USA.
Alicia HawesRegeneron Genetics Center, Tarrytown, NY, USA.
Evan MaxwellRegeneron Genetics Center, Tarrytown, NY, USA.
Lauren GurskiRegeneron Genetics Center, Tarrytown, NY, USA.
Kyoko WatanabeRegeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0002-3303-8860
Jack A KosmickiRegeneron Genetics Center, Tarrytown, NY, USA.
Veera RajagopalRegeneron Genetics Center, Tarrytown, NY, USA.
Jason MightyRegeneron Genetics Center, Tarrytown, NY, USA.
Regeneron Genetics Center
DiscovEHR
Marcus JonesRegeneron Genetics Center, Tarrytown, NY, USA.
Lyndon MitnaulRegeneron Genetics Center, Tarrytown, NY, USA.
Eli StahlRegeneron Genetics Center, Tarrytown, NY, USA.
Giovanni CoppolaRegeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0003-2105-1061
Eric JorgensonRegeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0002-5829-8191
Lukas HabeggerRegeneron Genetics Center, Tarrytown, NY, USA.
William J SalernoRegeneron Genetics Center, Tarrytown, NY, USA.
Alan R ShuldinerRegeneron Genetics Center, Tarrytown, NY, USA.
Luca A LottaRegeneron Genetics Center, Tarrytown, NY, USA.
John D OvertonRegeneron Genetics Center, Tarrytown, NY, USA.
Michael N CantorRegeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0002-1074-1203
Jeffrey G ReidRegeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0001-8645-4713
George YancopoulosRegeneron Genetics Center, Tarrytown, NY, USA.
Hyun M KangRegeneron Genetics Center, Tarrytown, NY, USA.
Jonathan MarchiniRegeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0003-0610-8322
Aris BarasRegeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0002-6830-3396
Gonçalo R AbecasisRegeneron Genetics Center, Tarrytown, NY, USA. goncalo.abecasis@regeneron.com.
Manuel A R FerreiraRegeneron Genetics Center, Tarrytown, NY, USA. manuel.ferreira@regeneron.com.ORCID http://orcid.org/0000-0001-9059-1825
Regeneron (United States) · US

Funding

Medical Research Council MC_PC_17228Medical Research Council MC_QA137853
6 · The paper itself

Abstract

A major goal in human genetics is to use natural variation to understand the phenotypic consequences of altering each protein-coding gene in the genome. Here we used exome sequencing

Indexed as

Biological Specimen BanksDatabases, GeneticExome SequencingAfricaAsiaAsthmaDiabetes MellitusEuropeExomeEye DiseasesFemaleGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHumansHypertension

Identifiers

PMID34662886
PMCPMC8596853
OpenAlexW3207912190

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.