Evidence map›Paper›PMID 22298700›Full record

ArticleGenetics2012

Inferring coancestry in population samples in the presence of linkage disequilibrium.

M D Brown, C G Glazner, C Zheng, E A Thompson

Open access · bronzeAbstract read
In one paragraph

Article in Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 1 pooled it
3.7field-weighted citation impact, top 6% 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

22 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. A renewal theory approach to IBD sharing.Theoretical population biology · 2014
    Article
  11. Article
  12. Article
  13. Article
  14. Joint inference of identity by descent along multiple chromosomes from population samples.Journal of computational biology : a journal of computational molecular cell biology · 2014
    Article
  15. Article
  16. Efficient identification of equivalences in dynamic graphs and pedigree structures.Journal of computational biology : a journal of computational molecular cell biology · 2013
    Article
  17. Review
  18. 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

4 authors at 1 institution in 1 country.

M D BrownDepartment of Statistics, University of Washington, Seattle, Washington 98195-4322, USA.
C G Glazner
C Zheng
E A Thompson
University of Washington · US

Funding

Statistical Methods for X-Chromosome Genetic DataP01GM099568 · NIGMS · UNIVERSITY OF WASHINGTON · PI WEIR, BRUCE S. · 2012 to 2016
$7.3M
Methods for the Genetic Epidemiology of Complex TraitsR37GM046255 · NIGMS · UNIVERSITY OF WASHINGTON · PI THOMPSON, ELIZABETH ALISON · 2008 to 2017
$4.2M
THE GENETIC EPIDEMIOLOGY OF COMPLEX TRAITSR01GM046255 · NIGMS · UNIVERSITY OF WASHINGTON · PI THOMPSON, ELIZABETH ALISON · 1991 to 2007
$2.7M
NIGMS NIH HHS GM046255NIGMS NIH HHS P01 GM099568NIGMS NIH HHS R01 GM046255NIGMS NIH HHS R37 GM046255
6 · The paper itself

Abstract

In both pedigree linkage studies and in population-based association studies there has been much interest in the use of modern dense genetic marker data to infer segments of gene identity by descent (ibd) among individuals not known to be related, to increase power and resolution in localizing genes affecting complex traits. In this article, we present a hidden Markov model (HMM) for ibd among a set of chromosomes and describe methods and software for inference of ibd among the four chromosomes of pairs of individuals, using either phased (haplotypic) or unphased (genotypic) data. The model allows for missing data and typing error, but does not model linkage disequilibrium (LD), because fitting an accurate LD model requires large samples from well-studied populations. However, LD remains a major confounding factor, since LD is itself a reflection of coancestry at the population level. To study the impact of LD, we have developed a novel simulation approach to generate realistic dense marker data for the same set of markers but at varying levels of LD. Using this approach, we present results of a study of the impact of LD on the sensitivity and specificity of our HMM model in estimating segments of ibd among sets of four chromosomes and between genotype pairs. We show that, despite not incorporating LD, our model has been quite successful in detecting segments as small as 10(6) bp (1 Mpb); we present also comparisons with fastIBD which uses an LD model in estimating ibd.

Indexed as

Genome, HumanLinkage DisequilibriumPedigreeChromosome MappingChromosomes, HumanComputer SimulationGenetics, PopulationGenetic VariationHaplotypesHumansInheritance PatternsMarkov ChainsModels, GeneticSensitivity and Specificity

Identifiers

PMID22298700
PMCPMC3316655
OpenAlexW2137993693

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.