ArticleAmerican journal of human genetics2020
Probabilistic Estimation of Identity by Descent Segment Endpoints and Detection of Recent Selection.
Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure.Briefings in bioinformatics · 2022Pooled it
- Genomic insights into natural selection in recent human history.Nature reviews. Genetics · 2026Review
- From Nuisance to Signal: Leveraging Close Relatives in Biobank-Scale Demographic Inference.bioRxiv : the preprint server for biology · 2026Article
- A sibling study of variation in parental mutation rates.bioRxiv : the preprint server for biology · 2026Article
- Reconstruction of the genetic history of the Austro-Asiatic- and Dravidian-speaking tribal populations of South Asia.iScience · 2026Article
- Multiple-testing corrections in case-control studies using identity-by-descent segments.American journal of human genetics · 2026Article
- Multiple-testing corrections in selection scans using identity-by-descent segments.American journal of human genetics · 2025Article
- Identity-by-descent segments in large samples.Theoretical population biology · 2025Article
- Estimating gene conversion rates from population data using multi-individual identity by descent.American journal of human genetics · 2025Article
- Benchmarking and optimization of methods for the detection of identity-by-descent in high-recombiningeLife · 2025Article
- clusIBD: Robust Detection of Identity-by-descent Segments Using Unphased Genetic Data from Poor-quality Samples.Genomics, proteomics & bioinformatics · 2025Article
- Multiple-testing corrections in case-control studies using identity-by-descent segments.bioRxiv : the preprint server for biology · 2025Article
- Fast simulation of identity-by-descent segments.Bulletin of mathematical biology · 2025Article
- Multiple-testing corrections in selection scans using identity-by-descent segments.bioRxiv : the preprint server for biology · 2025Article
- Fast simulation of identity-by-descent segments.bioRxiv : the preprint server for biology · 2025Article
- Modeling recent positive selection using identity-by-descent segments.American journal of human genetics · 2024Article
- Discovery of runs-of-homozygosity diplotype clusters and their associations with diseases in UK Biobank.eLife · 2024Article
- Biobank-scale inference of multi-individual identity by descent and gene conversion.American journal of human genetics · 2024Article
- Strong positive selection biases identity-by-descent-based inferences of recent demography and population structure in Plasmodium falciparum.Nature communications · 2024Article
- Biobank-scale inference of multi-individual identity by descent and gene conversion.bioRxiv : the preprint server for biology · 2023Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
Most methods for fast detection of identity by descent (IBD) segments report identity by state segments without any quantification of the uncertainty in the endpoints and lengths of the IBD segments. We present a method for determining the posterior probability distribution of IBD segment endpoints. Our approach accounts for genotype errors, recent mutations, and gene conversions which disrupt DNA sequence identity within IBD segments, and it can be applied to large cohorts with whole-genome sequence or SNP array data. We find that our method's estimates of uncertainty are well calibrated for homogeneous samples. We quantify endpoint uncertainty for 77.7 billion IBD segments from 408,883 individuals of white British ancestry in the UK Biobank, and we use these IBD segments to find regions showing evidence of recent natural selection. We show that many spurious selection signals are eliminated by the use of unbiased estimates of IBD segment endpoints and a pedigree-based genetic map. Eleven of the twelve regions with the greatest evidence for recent selection in our scan have been identified as selected in previous analyses using different approaches. Our computationally efficient method for quantifying IBD segment endpoint uncertainty is implemented in the open source ibd-ends software package.
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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.