Evidence map›Paper›PMID 38513668›Full record

ArticleAmerican journal of human genetics2024

Biobank-scale inference of multi-individual identity by descent and gene conversion.

Sharon R Browning, Brian L Browning

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
9.9field-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

14 citing papers in PubMed, 18 citations in OpenAlex.

  1. Article
  2. SLAB: A Sweep Line Algorithm in PBWT for Finding Haplotype Block Cores.bioRxiv : the preprint server for biology · 2026
    Article
  3. Article
  4. Article
  5. Identity-by-descent segments in large samples.Theoretical population biology · 2025
    Article
  6. Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Fast simulation of identity-by-descent segments.Bulletin of mathematical biology · 2025
    Article
  12. Article
  13. Fast simulation of identity-by-descent segments.bioRxiv : the preprint server for biology · 2025
    Article
  14. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

2 authors at 1 institution in 1 country.

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

Funding

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
NHGRI NIH HHS R01 HG005701NHGRI NIH HHS R01 HG008359
6 · The paper itself

Abstract

We present a method for efficiently identifying clusters of identical-by-descent haplotypes in biobank-scale sequence data. Our multi-individual approach enables much more computationally efficient inference of identity by descent (IBD) than approaches that infer pairwise IBD segments and provides locus-specific IBD clusters rather than IBD segments. Our method's computation time, memory requirements, and output size scale linearly with the number of individuals in the dataset. We also present a method for using multi-individual IBD to detect alleles changed by gene conversion. Application of our methods to the autosomal sequence data for 125,361 White British individuals in the UK Biobank detects more than 9 million converted alleles. This is 2,900 times more alleles changed by gene conversion than were detected in a previous analysis of familial data. We estimate that more than 250,000 sequenced probands and a much larger number of additional genomes from multi-generational family members would be required to find a similar number of alleles changed by gene conversion using a family-based approach. Our IBD clustering method is implemented in the open-source ibd-cluster software package.

Indexed as

Biological Specimen BanksGene ConversionChromosomesHaplotypesHumansPolymorphism, Single NucleotideSoftware

Identifiers

PMID38513668
PMCPMC11023918
OpenAlexW4393026325

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.