Evidence map›Paper›PMID 25149691›Full record

ArticleTheoretical population biology2014

A renewal theory approach to IBD sharing.

Shai Carmi, Peter R Wilton, John Wakeley, Itsik Pe'er

Abstract read
In one paragraph

Article in Theoretical population biology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

17 citing papers in PubMed.

  1. Article
  2. Article
  3. Exact Decoding of a Sequentially Markov Coalescent Model in Genetics.Journal of the American Statistical Association · 2024
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
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  10. Article
  11. Article
  12. Article
  13. Exact limits of inference in coalescent models.Theoretical population biology · 2019
    Article
  14. Article
  15. Rapidly Registering Identity-by-Descent Across Ancestral Recombination Graphs.Journal of computational biology : a journal of computational molecular cell biology · 2016
    Article
  16. Article
  17. 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.

Shai CarmiDepartment of Computer Science, Columbia University, New York, NY, 10027, USA. Electronic address: scarmi@cs.columbia.edu.
Peter R WiltonDepartment of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA, 02138, USA.
John WakeleyDepartment of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA, 02138, USA.
Itsik Pe'erDepartment of Computer Science, Columbia University, New York, NY, 10027, USA.

Funding

Next Generation Sequencing for Disease Mapping in a Founder PopulationR01MH095458 · NIMH · FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH · PI DARVASI, ARIEL, LENCZ, TODD · 2013 to 2016
$3.8M
NIMH NIH HHS 1R01MH095458-01A1NIMH NIH HHS R01 MH095458
6 · The paper itself

Abstract

A long genomic segment inherited by a pair of individuals from a single, recent common ancestor is said to be identical-by-descent (IBD). Shared IBD segments have numerous applications in genetics, from demographic inference to phasing, imputation, pedigree reconstruction, and disease mapping. Here, we provide a theoretical analysis of IBD sharing under Markovian approximations of the coalescent with recombination. We describe a general framework for the IBD process along the chromosome under the Markovian models (SMC/SMC'), as well as introduce and justify a new model, which we term the renewal approximation, under which lengths of successive segments are independent. Then, considering the infinite-chromosome limit of the IBD process, we recover previous results (for SMC) and derive new results (for SMC') for the mean number of shared segments longer than a cutoff and the fraction of the chromosome found in such segments. We then use renewal theory to derive an expression (in Laplace space) for the distribution of the number of shared segments and demonstrate implications for demographic inference. We also compute (again, in Laplace space) the distribution of the fraction of the chromosome in shared segments, from which we obtain explicit expressions for the first two moments. Finally, we generalize all results to populations with a variable effective size.

Indexed as

Genetics, PopulationModels, TheoreticalGenetic LinkageMarkov ChainsModels, GeneticPedigreeCoalescent theoryIBD sharingRecombinationRenewal theorySMCSMC’

Identifiers

PMID25149691
PMCPMC4179929

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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.