Evidence map›Paper›PMID 34083788›Full record

ArticleNature genetics2021

Rapid genotype imputation from sequence with reference panels.

Robert W Davies, Marek Kucka, Dingwen Su, Sinan Shi, Maeve Flanagan, Christopher M Cunniff, Yingguang Frank Chan, Simon Myers

Abstract read
In one paragraph

Article in Nature genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers.

0numbers the graph read from it
0cells of the map it votes in
56citing papers in PubMed
–field-weighted citation impact
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

56 citing papers in PubMed.

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  13. Low-coverage whole-genome sequencing facilitates accurate and cost-effective haplotype reconstruction in complex mouse crosses.Mammalian genome : official journal of the International Mammalian Genome Society · 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

8 authors.

Robert W DaviesDepartment of Statistics, University of Oxford, Oxford, UK. robert.davies@stats.ox.ac.uk.ORCID http://orcid.org/0000-0002-2252-0862
Marek KuckaFriedrich Miescher Laboratory of the Max Planck Society, Tübingen, Germany.
Dingwen SuFriedrich Miescher Laboratory of the Max Planck Society, Tübingen, Germany.
Sinan ShiDepartment of Statistics, University of Oxford, Oxford, UK.
Maeve FlanaganDepartment of Pediatrics, Weill Cornell Medical College, New York, NY, USA.
Christopher M CunniffDepartment of Pediatrics, Weill Cornell Medical College, New York, NY, USA.
Yingguang Frank Chan *Friedrich Miescher Laboratory of the Max Planck Society, Tübingen, Germany.ORCID http://orcid.org/0000-0001-6292-9681
Simon Myers *Department of Statistics, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-2585-9626

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
Department of HealthEuropean Research Council 639096NHGRI NIH HHS UM1 HG008901Wellcome Trust 200186Wellcome Trust 203141Wellcome Trust 212284
6 · The paper itself

Abstract

Inexpensive genotyping methods are essential to modern genomics. Here we present QUILT, which performs diploid genotype imputation using low-coverage whole-genome sequence data. QUILT employs Gibbs sampling to partition reads into maternal and paternal sets, facilitating rapid haploid imputation using large reference panels. We show this partitioning to be accurate over many megabases, enabling highly accurate imputation close to theoretical limits and outperforming existing methods. Moreover, QUILT can impute accurately using diverse technologies, including long reads from Oxford Nanopore Technologies, and a new form of low-cost barcoded Illumina sequencing called haplotagging, with the latter showing improved accuracy at low coverages. Relative to DNA genotyping microarrays, QUILT offers improved accuracy at reduced cost, particularly for diverse populations that are traditionally underserved in modern genomic analyses, with accuracy nearly doubling at rare SNPs. Finally, QUILT can accurately impute (four-digit) human leukocyte antigen types, the first such method from low-coverage sequence data.

Indexed as

GenotypeGenotyping TechniquesWhole Genome SequencingComputational BiologyDiploidyHumansPolymorphism, Single NucleotideReproducibility of ResultsSequence Analysis, DNA

Identifiers

PMID34083788
PMCPMC7611184

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Registered trials

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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.