Evidence map›Paper›PMID 20592264›Full record

ArticleGenetics2010

A principled approach to deriving approximate conditional sampling distributions in population genetics models with recombination.

Joshua S Paul, Yun S Song

Abstract read
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Article in Genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

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21citing papers in PubMed
–field-weighted citation impact
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3 · Its place in the literature

Who cites it

21 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Exact Decoding of a Sequentially Markov Coalescent Model in Genetics.Journal of the American Statistical Association · 2024
    Article
  5. The solution surface of the Li-Stephens haplotype copying model.Algorithms for molecular biology : AMB · 2023
    Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Stopping-time resampling and population genetic inference under coalescent models.Statistical applications in genetics and molecular biology · 2012
    Article
4 · The record

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5 · Who and what money

Authors and funding

2 authors.

Joshua S PaulComputer Science Division, University of California, Berkeley, California 94720, USA.
Yun S Song

Funding

Novel Methods for Characterizing Recombination and SelectionR00GM080099 · NIGMS · UNIVERSITY OF CALIFORNIA BERKELEY · PI SONG, YUN S · 2008 to 2010
$744k
NIGMS NIH HHS R00 GM080099NIGMS NIH HHS R00-GM080099
6 · The paper itself

Abstract

The multilocus conditional sampling distribution (CSD) describes the probability that an additionally sampled DNA sequence is of a certain type, given that a collection of sequences has already been observed. The CSD has a wide range of applications in both computational biology and population genomics analysis, including phasing genotype data into haplotype data, imputing missing data, estimating recombination rates, inferring local ancestry in admixed populations, and importance sampling of coalescent genealogies. Unfortunately, the true CSD under the coalescent with recombination is not known, so approximations, formulated as hidden Markov models, have been proposed in the past. These approximations have led to a number of useful statistical tools, but it is important to recognize that they were not derived from, though were certainly motivated by, principles underlying the coalescent process. The goal of this article is to develop a principled approach to derive improved CSDs directly from the underlying population genetics model. Our approach is based on the diffusion process approximation and the resulting mathematical expressions admit intuitive genealogical interpretations, which we utilize to introduce further approximations and make our method scalable in the number of loci. The general algorithm presented here applies to an arbitrary number of loci and an arbitrary finite-alleles recurrent mutation model. Empirical results are provided to demonstrate that our new CSDs are in general substantially more accurate than previously proposed approximations.

Indexed as

Models, GeneticRecombination, GeneticAlgorithmsDiffusionDNAFemaleGenetic LociHumansLikelihood FunctionsMalePhylogenyProbabilitySample SizeDNA

Identifiers

PMID20592264
PMCPMC2940296

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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.