ArticleGigaScience2022
Open-source benchmarking of IBD segment detection methods for biobank-scale cohorts.
Article in GigaScience, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 17 papers.
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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.
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Who cites it
17 citing papers in PubMed.
- HiFiMAP: High-resolution fast identity-by-descent mapping test.medRxiv : the preprint server for health sciences · 2026Article
- A Benchmark of Modern Statistical Phasing Methods.bioRxiv : the preprint server for biology · 2026Article
- Linkage- and ROH-based genomic relationship matrices for IBD based management of genetic diversity.Genetics, selection, evolution : GSE · 2026Article
- hmmibd-rs: an enhanced hmmIBD implementation for parallelizable identity-by-descent detection from large-scale Plasmodium genomic data.Malaria journal · 2026Article
- RaPID2: a parallel scalable framework for identity-by-descent segment detection via parallel PBWT.Bioinformatics advances · 2026Article
- 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
- SPANature communications · 2025Article
- Estimating evolutionary and demographic parameters via ARG-derived IBD.PLoS genetics · 2025Article
- Clinical Expression of Familial Hypercholesterolemia in Patients from France and French Canada Carrying Identical-by-Descent PathogenicJournal of clinical medicine · 2024Article
- Fast and accurate local ancestry inference with Recomb-Mix.bioRxiv : the preprint server for biology · 2024Article
- Strong positive selection biases identity-by-descent-based inferences of recent demography and population structure in Plasmodium falciparum.Nature communications · 2024Article
- Estimating evolutionary and demographic parameters via ARG-derived IBD.bioRxiv : the preprint server for biology · 2024Article
- Article
- Strong Positive Selection Biases Identity-By-Descent-Based Inferences of Recent Demography and Population Structure inbioRxiv : the preprint server for biology · 2023Article
- RaPID-Query for fast identity by descent search and genealogical analysis.Bioinformatics (Oxford, England) · 2023Article
- Open-source benchmarking of IBD segment detection methods for biobank-scale cohorts.GigaScience · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
5 authors.
Funding
Abstract
In the recent biobank era of genetics, the problem of identical-by-descent (IBD) segment detection received renewed interest, as IBD segments in large cohorts offer unprecedented opportunities in the study of population and genealogical history, as well as genetic association of long haplotypes. While a new generation of efficient methods for IBD segment detection becomes available, direct comparison of these methods is difficult: existing benchmarks were often evaluated in different datasets, with some not openly accessible; methods benchmarked were run under suboptimal parameters; and benchmark performance metrics were not defined consistently. Here, we developed a comprehensive and completely open-source evaluation of the power, accuracy, and resource consumption of these IBD segment detection methods using realistic population genetic simulations with various settings. Our results pave the road for fair evaluation of IBD segment detection methods and provide an practical guide for users.
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Registered trials
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.