Evidence map›Paper›PMID 32169169›Full record

ArticleAmerican journal of human genetics2020

A Fast and Simple Method for Detecting Identity-by-Descent Segments in Large-Scale Data.

Ying Zhou, Sharon R Browning, Brian L Browning

Abstract read
In one paragraph

Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 137 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
137citing papers in PubMed, 1 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

137 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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  9. medRxiv : the preprint server for health sciences · 2026
    Article
  10. HiFiMAP: High-resolution fast identity-by-descent mapping test.medRxiv : the preprint server for health sciences · 2026
    Article
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  16. SLAB: A Sweep Line Algorithm in PBWT for Finding Haplotype Block Cores.bioRxiv : the preprint server for biology · 2026
    Article
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  20. Article

77 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

3 authors.

Ying ZhouDepartment of Biostatistics, University of Washington, Seattle, WA 98195, USA.
Sharon R BrowningDepartment of Biostatistics, University of Washington, Seattle, WA 98195, USA.
Brian L BrowningDepartment of Biostatistics, University of Washington, Seattle, WA 98195, USA; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA. Electronic address: browning@uw.edu.

Funding

Theoretical Population Genetics SupplementR01GM075091 · NIGMS · UNIVERSITY OF WASHINGTON · PI WEIR, BRUCE S. · 2006 to 2020
$4.7M
Improved gene mapping for whole genome dataR01HG005701 · NHGRI · UNIVERSITY OF WASHINGTON · PI BROWNING, BRIAN LEE · 2010 to 2024
$4.4M
Improved modeling of genotype dataR01HG008359 · NHGRI · UNIVERSITY OF WASHINGTON · PI BROWNING, BRIAN LEE · 2015 to 2022
$2.8M
Medical Research Council MC_PC_17228Medical Research Council MC_QA137853NHGRI NIH HHS R01 HG005701NHGRI NIH HHS R01 HG008359NIGMS NIH HHS R01 GM075091
6 · The paper itself

Abstract

Segments of identity by descent (IBD) are used in many genetic analyses. We present a method for detecting identical-by-descent haplotype segments in phased genotype data. Our method, called hap-IBD, combines a compressed representation of haplotype data, the positional Burrows-Wheeler transform, and multi-threaded execution to produce very fast analysis times. An attractive feature of hap-IBD is its simplicity: the input parameters clearly and precisely define the IBD segments that are reported, so that program correctness can be confirmed by users. We evaluate hap-IBD and four state-of-the-art IBD segment detection methods (GERMLINE, iLASH, RaPID, and TRUFFLE) using UK Biobank chromosome 20 data and simulated sequence data. We show that hap-IBD detects IBD segments faster and more accurately than competing methods, and that hap-IBD is the only method that can rapidly and accurately detect short 2-4 centiMorgan (cM) IBD segments in the full UK Biobank data. Analysis of 485,346 UK Biobank samples through the use of hap-IBD with 12 computational threads detects 231.5 billion autosomal IBD segments with length ≥2 cM in 24.4 h.

Indexed as

AllelesChromosomesComputer SimulationData AnalysisGenetic MarkersGenetics, PopulationGenome, HumanGenotypeHaplotypesHumansPolymorphism, Single NucleotideSequence Analysis, DNASoftwareGenetic Markershaplotypeidentity by descentUK Biobank

Identifiers

PMID32169169
PMCPMC7118582

What OpenQuestion holds

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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.