Evidence map›Paper›PMID 34478634›Full record

ArticleAmerican journal of human genetics2021

Fast two-stage phasing of large-scale sequence data.

Brian L Browning, Xiaowen Tian, Ying Zhou, Sharon R Browning

Abstract read
In one paragraph

Article in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 519 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
519citing papers in PubMed, 2 pooled it
–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

519 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
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  10. Novel genetic profile linked to cognitive decline in Hispanics/Latinos.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
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  16. Discovering common and population-specific QTLs for leaf rust resistance in different Barley populations.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2026
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459 more citing papers are in PubMed but not listed here.

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

4 authors.

Brian L BrowningDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA; Department of Biostatistics, University of Washington, Seattle, WA 98195, USA. Electronic address: browning@uw.edu.
Xiaowen TianStatistical Innovation, Oncology Biometrics, AstraZeneca, Gaithersburg, MD 20878, USA.
Ying ZhouPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
Sharon R BrowningDepartment of Biostatistics, University of Washington, Seattle, WA 98195, USA.

Funding

Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6M
FRAMINGHAM HEART STUDY - YEAR 5 EXAM75N92019D00031 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · 2019 to 2024
$29.8M
New Approaches for Empowering Studies of Asthma in Populations of African DescentR01HL104608 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI BARNES, KATHLEEN C, KENNY, EIMEAR ELIZABETH · 2011 to 2022
$23.1M
IDENTIFICATION OF COMMON GENETIC VARIANTS FOR ATRIAL FIBRILLATION AND PR INTERVALR01HL092577 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2009 to 2025
$20.6M
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
Genome-Wide Association Studies of Asthma in Populations of African DescentR01HL087699 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI BARNES, KATHLEEN C · 2006 to 2008
$5.8M
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
Improved modeling of genotype dataR01HG008359 · NHGRI · UNIVERSITY OF WASHINGTON · PI BROWNING, BRIAN LEE · 2015 to 2022
$2.8M
THE FRAMINGHAM HEART STUDY-N01HC25195-268025195-268025195N01HC025195 · HC · TRUSTEES OF BOSTON UNIVERSITY · PI WOLF, PHILIP A · 2002 to 2006
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Medical Research Council MC_PC_17228Medical Research Council MC_QA137853NHGRI NIH HHS R01 HG008359NHGRI NIH HHS U54 HG003067NHLBI NIH HHS 75N92019D00031NHLBI NIH HHS HHSN268201500001CNHLBI NIH HHS HHSN268201500001INHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS N01 HC025195NHLBI NIH HHS R01 HL087699NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL104608NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS U01 HL120393
6 · The paper itself

Abstract

Haplotype phasing is the estimation of haplotypes from genotype data. We present a fast, accurate, and memory-efficient haplotype phasing method that scales to large-scale SNP array and sequence data. The method uses marker windowing and composite reference haplotypes to reduce memory usage and computation time. It incorporates a progressive phasing algorithm that identifies confidently phased heterozygotes in each iteration and fixes the phase of these heterozygotes in subsequent iterations. For data with many low-frequency variants, such as whole-genome sequence data, the method employs a two-stage phasing algorithm that phases high-frequency markers via progressive phasing in the first stage and phases low-frequency markers via genotype imputation in the second stage. This haplotype phasing method is implemented in the open-source Beagle 5.2 software package. We compare Beagle 5.2 and SHAPEIT 4.2.1 by using expanding subsets of 485,301 UK Biobank samples and 38,387 TOPMed samples. Both methods have very similar accuracy and computation time for UK Biobank SNP array data. However, for TOPMed sequence data, Beagle is more than 20 times faster than SHAPEIT, achieves similar accuracy, and scales to larger sample sizes.

Indexed as

Data Interpretation, StatisticalGenome, HumanHaplotypesPolymorphism, Single NucleotideSoftwareAlgorithmsAsthmaAtrial FibrillationFemaleGenome-Wide Association StudyGenotypeHumansMalegenotype phasinghaplotype phasingphasingTOPMedUK Biobank

Identifiers

PMID34478634
PMCPMC8551421

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.