Evidence map›Paper›PMID 35508176›Full record

SynthesisAmerican journal of human genetics2022

Meta-imputation: An efficient method to combine genotype data after imputation with multiple reference panels.

Ketian Yu, Sayantan Das, Jonathon LeFaive, Alan Kwong, Jacob Pleiness, Lukas Forer, Sebastian Schönherr, Christian Fuchsberger, Albert Vernon Smith, Gonçalo Rocha Abecasis

Open access · greenAbstract readMeta-Analysis
In one paragraph

Synthesis in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
7.7field-weighted citation impact, top 2% 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

28 citing papers in PubMed, 44 citations in OpenAlex.

  1. Article
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  15. Building and sharing medical cohorts for research.Innovation (Cambridge (Mass.)) · 2024
    Review
  16. Imputation accuracy across global human populations.American journal of human genetics · 2024
    Article
  17. A resampling-based approach to share reference panels.Nature computational science · 2024
    Article
  18. 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

10 authors at 4 institutions in 3 countries.

Ketian YuDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48105, USA. Electronic address: yukt@umich.edu.
Sayantan DasDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48105, USA; 23andMe, Sunnyvale, CA 94086, USA.
Jonathon LeFaiveDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48105, USA.
Alan KwongDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48105, USA.
Jacob PleinessDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48105, USA.
Lukas ForerInstitute of Genetic Epidemiology, Department of Genetics and Pharmacology, Medical University of Innsbruck, 6020 Innsbruck, Austria.
Sebastian SchönherrInstitute of Genetic Epidemiology, Department of Genetics and Pharmacology, Medical University of Innsbruck, 6020 Innsbruck, Austria.
Christian FuchsbergerDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48105, USA; Institute of Genetic Epidemiology, Department of Genetics and Pharmacology, Medical University of Innsbruck, 6020 Innsbruck, Austria; Institute for Biomedicine, Eurac Research, 39100 Bolzano/Bozen, Italy.
Albert Vernon SmithDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48105, USA.
Gonçalo Rocha AbecasisDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48105, USA; Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
University of Michigan–Ann Arbor · US23andMe (United States) · USInnsbruck Medical University · ATUniversität Innsbruck · AT

Funding

Studies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5M
Rare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9M
Rare variants and NHLBI traits in deeply phenotyped cohortsU01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2017 to 2018
$5.6M
Medical Research Council MC_PC_17228Medical Research Council MC_QA137853NHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS U01 HL120393
6 · The paper itself

Abstract

Genotype imputation is an integral tool in genome-wide association studies, in which it facilitates meta-analysis, increases power, and enables fine-mapping. With the increasing availability of whole-genome-sequence datasets, investigators have access to a multitude of reference-panel choices for genotype imputation. In principle, combining all sequenced whole genomes into a single large panel would provide the best imputation performance, but this is often cumbersome or impossible due to privacy restrictions. Here, we describe meta-imputation, a method that allows imputation results generated using different reference panels to be combined into a consensus imputed dataset. Our meta-imputation method requires small changes to the output of existing imputation tools to produce necessary inputs, which are then combined using dynamically estimated weights that are tailored to each individual and genome segment. In the scenarios we examined, the method consistently outperforms imputation using a single reference panel and achieves accuracy comparable to imputation using a combined reference panel.

Indexed as

Genome-Wide Association StudyPolymorphism, Single NucleotideGenomeGenotypeHumansResearch Designgenome-wide association studygenotype imputation

Identifiers

PMID35508176
PMCPMC9247833
OpenAlexW4225327029

What OpenQuestion holds

Textmetadata
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.