Evidence map›Paper›PMID 22006673›Full record

ArticleGenetic epidemiology2011

Identity-by-descent-based phasing and imputation in founder populations using graphical models.

Kimmo Palin, Harry Campbell, Alan F Wright, James F Wilson, Richard Durbin

Abstract read
In one paragraph

Article in Genetic epidemiology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
–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

22 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
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  5. Article
  6. Article
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  11. Identity-by-descent mapping in a Scandinavian multiple sclerosis cohort.European journal of human genetics : EJHG · 2015
    Article
  12. A renewal theory approach to IBD sharing.Theoretical population biology · 2014
    Article
  13. Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2014
    Article
  14. Using population isolates in genetic association studies.Briefings in functional genomics · 2014
    Review
  15. Article
  16. Article
  17. Article
  18. Imputation-based assessment of next generation rare exome variant arrays.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2014
    Article
  19. Article
  20. Article
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

5 authors.

Kimmo PalinWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom.
Harry Campbell
Alan F Wright
James F Wilson
Richard Durbin

Funding

Chief Scientist Office CZB/4/710Medical Research Council MC_U127561128Wellcome Trust 076113Wellcome Trust 077192Wellcome Trust 085475
6 · The paper itself

Abstract

Accurate knowledge of haplotypes, the combination of alleles co-residing on a single copy of a chromosome, enables powerful gene mapping and sequence imputation methods. Since humans are diploid, haplotypes must be derived from genotypes by a phasing process. In this study, we present a new computational model for haplotype phasing based on pairwise sharing of haplotypes inferred to be Identical-By-Descent (IBD). We apply the Bayesian network based model in a new phasing algorithm, called systematic long-range phasing (SLRP), that can capitalize on the close genetic relationships in isolated founder populations, and show with simulated and real genome-wide genotype data that SLRP substantially reduces the rate of phasing errors compared to previous phasing algorithms. Furthermore, the method accurately identifies regions of IBD, enabling linkage-like studies without pedigrees, and can be used to impute most genotypes with very low error rate.

Indexed as

Genetics, PopulationModels, GeneticAlgorithmsBayes TheoremComputer GraphicsComputer SimulationHaplotypesHumansPolymorphism, Single NucleotideScotland

Identifiers

PMID22006673
PMCPMC3368215

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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.