Evidence map›Paper›PMID 35604078›Full record

ArticleBioinformatics (Oxford, England)2022

Using the UK Biobank as a global reference of worldwide populations: application to measuring ancestry diversity from GWAS summary statistics.

Florian Privé

Open access · hybridAbstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed, 2 pooled it
6.5field-weighted citation impact, top 3% 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

32 citing papers in PubMed, 2 syntheses or guidelines pooled it, 36 citations in OpenAlex.

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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

1 author at 1 institution in 1 country.

Florian PrivéNational Centre for Register-based Research, Aarhus University, Aarhus 8210, Denmark.ORCID 0000-0002-3138-2078
Aarhus University · DK

Funding

Bjarni J. VilhjálmssonDanish National Research FoundationLundbeck Foundation Fellowship R335-2019-2339Medical Research Council MC_PC_17228Medical Research Council MC_QA137853
6 · The paper itself

Abstract

motivationMeasuring genetic diversity is an important problem because increasing genetic diversity is a key to making new genetic discoveries, while also being a major source of confounding to be aware of in genetics studies.

resultsUsing the UK Biobank data, a prospective cohort study with deep genetic and phenotypic data collected on almost 500 000 individuals from across the UK, we carefully define 21 distinct ancestry groups from all four corners of the world. These ancestry groups can serve as a global reference of worldwide populations, with a handful of applications. Here, we develop a method that uses allele frequencies and principal components derived from these ancestry groups to effectively measure ancestry proportions from allele frequencies of any genetic dataset. AVAILABILITY AND IMPLEMENTATION: This method is implemented in function snp_ancestry_summary of R package bigsnpr. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Indexed as

Biological Specimen BanksGenome-Wide Association StudyGenotypeHumansPolymorphism, Single NucleotideProspective StudiesUnited Kingdom

Identifiers

PMID35604078
PMCPMC9237724
OpenAlexW4281297248

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.