Evidence map›Paper›PMID 15700229›Full record

ArticleAmerican journal of human genetics2005

Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation.

Matthew Stephens, Paul Scheet

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 591 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
591citing papers in PubMed, 3 pooled it
33.1field-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

591 citing papers in PubMed, 3 syntheses or guidelines pooled it, 1,359 citations in OpenAlex.

  1. Pooled it
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  10. International journal of molecular sciences · 2026
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  15. TheInternational journal of molecular sciences · 2025
    Article
  16. Article
  17. Participation bias in the estimation of heritability and genetic correlation.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  18. Article
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531 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 1 institution in 1 country.

Matthew StephensDepartment of Statistics, University of Washington, Seattle, WA 98195-4322, USA. stephens@stat.washington.edu
Paul Scheet
University of Washington · US

Funding

INTERDISCIPLINARY TRAINING IN GENOMIC SCIENCEST32HG000035 · NHGRI · UNIVERSITY OF WASHINGTON · PI Bruce Colston Trapnell · 1995 to 2026
$24.2M
Genome analysis: statistical methods and applicationsR01HG002585 · NHGRI · UNIVERSITY OF WASHINGTON · PI MATTHEW STEPHENS · 2002 to 2026
$8.4M
NHGRI NIH HHS 1R01HG/LM02585-01NHGRI NIH HHS T32 HG00035
6 · The paper itself

Abstract

Although many algorithms exist for estimating haplotypes from genotype data, none of them take full account of both the decay of linkage disequilibrium (LD) with distance and the order and spacing of genotyped markers. Here, we describe an algorithm that does take these factors into account, using a flexible model for the decay of LD with distance that can handle both "blocklike" and "nonblocklike" patterns of LD. We compare the accuracy of this approach with a range of other available algorithms in three ways: for reconstruction of randomly paired, molecularly determined male X chromosome haplotypes; for reconstruction of haplotypes obtained from trios in an autosomal region; and for estimation of missing genotypes in 50 autosomal genes that have been completely resequenced in 24 African Americans and 23 individuals of European descent. For the autosomal data sets, our new approach clearly outperforms the best available methods, whereas its accuracy in inferring the X chromosome haplotypes is only slightly superior. For estimation of missing genotypes, our method performed slightly better when the two subsamples were combined than when they were analyzed separately, which illustrates its robustness to population stratification. Our method is implemented in the software package PHASE (v2.1.1), available from the Stephens Lab Web site.

Indexed as

AlgorithmsLinkage DisequilibriumModels, GeneticAllelesBiometryChromosomes, Human, XData Interpretation, StatisticalGenomicsGenotypeHaplotypesHumansMaleSoftware

Identifiers

PMID15700229
PMCPMC1196397
OpenAlexW2031082289

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.