Evidence map›Paper›PMID 23535385›Full record

ArticleGenetics2013

Improving the accuracy and efficiency of identity-by-descent detection in population data.

Brian L Browning, Sharon R Browning

Open access · bronzeAbstract read
In one paragraph

Article in Genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 378 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
378citing papers in PubMed, 2 pooled it
20.9field-weighted citation impact, top 1% 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

378 citing papers in PubMed, 2 syntheses or guidelines pooled it, 734 citations in OpenAlex.

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  15. Genetic structure and admixture of the Yi and Qiang in southwestern China.Journal of Zhejiang University. Science. B · 2026
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318 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

2 authors at 2 institutions in 1 country.

Brian L BrowningDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA. browning@uw.edu
Sharon R Browning
University of Washington · USUniversity of Washington Medical Center · US

Funding

Statistical Methods for X-Chromosome Genetic DataP01GM099568 · NIGMS · UNIVERSITY OF WASHINGTON · PI WEIR, BRUCE S. · 2012 to 2016
$7.3M
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
Improving genotype call accuracyR01HG004960 · NHGRI · UNIVERSITY OF WASHINGTON · PI BROWNING, BRIAN LEE · 2009 to 2014
$1.4M
NHGRI NIH HHS HG004960NHGRI NIH HHS HG005701NHGRI NIH HHS R01 HG004960NHGRI NIH HHS R01 HG005701NIGMS NIH HHS GM075091NIGMS NIH HHS GM099568NIGMS NIH HHS P01 GM099568NIGMS NIH HHS R01 GM075091Wellcome Trust 076113
6 · The paper itself

Abstract

Segments of indentity-by-descent (IBD) detected from high-density genetic data are useful for many applications, including long-range phase determination, phasing family data, imputation, IBD mapping, and heritability analysis in founder populations. We present Refined IBD, a new method for IBD segment detection. Refined IBD achieves both computational efficiency and highly accurate IBD segment reporting by searching for IBD in two steps. The first step (identification) uses the GERMLINE algorithm to find shared haplotypes exceeding a length threshold. The second step (refinement) evaluates candidate segments with a probabilistic approach to assess the evidence for IBD. Like GERMLINE, Refined IBD allows for IBD reporting on a haplotype level, which facilitates determination of multi-individual IBD and allows for haplotype-based downstream analyses. To investigate the properties of Refined IBD, we simulate SNP data from a model with recent superexponential population growth that is designed to match United Kingdom data. The simulation results show that Refined IBD achieves a better power/accuracy profile than fastIBD or GERMLINE. We find that a single run of Refined IBD achieves greater power than 10 runs of fastIBD. We also apply Refined IBD to SNP data for samples from the United Kingdom and from Northern Finland and describe the IBD sharing in these data sets. Refined IBD is powerful, highly accurate, and easy to use and is implemented in Beagle version 4.

Indexed as

PedigreeAlgorithmsFinlandGenetics, PopulationHaplotypesHumansModels, GeneticPolymorphism, Single NucleotidePopulationSensitivity and SpecificityUnited KingdomBeagleidentity-by-descent (IBD) segmentsshared haplotypes

Identifiers

PMID23535385
PMCPMC3664855
OpenAlexW2098066250

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.