From IBD tracts to runs of homozygosity: a unified coalescent framework including selection
Abstract
Identity-by-descent (IBD) tracts and runs of homozygosity (ROH) represent the underlying and observable aspects of chromosomal autozygosity, but no formal relationship between them had been established. This study develops a coalescent framework that connects these concepts, providing tools for detecting selection signatures and extending the temporal range of effective population size (Ne) inference. Closed-form probability functions are derived for IBD tract lengths and mapped onto observable ROHs by modelling the displacement of autozygosity boundaries from true recombination breakpoints to the nearest heterozygous marker. This mapping explicitly accounts for mutation, gene conversion, marker density, and heterozygosity. Selection effects are incorporated analytically, yielding computational tools to predict tract length distributions under background selection and partial or complete selective sweeps. Background selection shifts IBD tract-length distributions toward longer tracts, an effect better explained by a generation-dependent Ne reduction below its neutral value than by a single constant Ne. Selective sweeps generate directional asymmetry in tract-length distributions at neutral sites linked with the selected locus, with its direction indicating on which side of the neutral site the selected locus resides. This asymmetry decays rapidly after the sweep, whereas the local Ne reduction estimated from the median tract length persists considerably longer. The coalescent framework is further extended to arbitrary time-varying population size, enabling insights into past demography across a wide temporal range.
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BibTeX
@misc{santiago2026from,
title = {{From IBD tracts to runs of homozygosity: a unified coalescent framework including selection}},
author = {Enrique Santiago},
howpublished = {arXiv},
year = {2026},
month = oct,
doi = {10.48550/arxiv.2605.03498},
eprint = {2605.03498},
archivePrefix = {arXiv},
url = {https://arxiv.org/abs/2605.03498},
note = {CC BY 4.0},
}
RIS
TY - UNPB
TI - From IBD tracts to runs of homozygosity: a unified coalescent framework including selection
AU - Enrique Santiago
PY - 2026
DA - 2026/10/27
PB - arXiv
DO - 10.48550/arxiv.2605.03498
UR - https://arxiv.org/abs/2605.03498
AB - Identity-by-descent (IBD) tracts and runs of homozygosity (ROH) represent the underlying and observable aspects of chromosomal autozygosity, but no formal relationship between them had been established. This study develops a coalescent framework that connects these concepts, providing tools for detecting selection signatures and extending the temporal range of effective population size (Ne) inference. Closed-form probability functions are derived for IBD tract lengths and mapped onto observable ROHs by modelling the displacement of autozygosity boundaries from true recombination breakpoints to the nearest heterozygous marker. This mapping explicitly accounts for mutation, gene conversion, marker density, and heterozygosity. Selection effects are incorporated analytically, yielding computational tools to predict tract length distributions under background selection and partial or complete selective sweeps. Background selection shifts IBD tract-length distributions toward longer tracts, an effect better explained by a generation-dependent Ne reduction below its neutral value than by a single constant Ne. Selective sweeps generate directional asymmetry in tract-length distributions at neutral sites linked with the selected locus, with its direction indicating on which side of the neutral site the selected locus resides. This asymmetry decays rapidly after the sweep, whereas the local Ne reduction estimated from the median tract length persists considerably longer. The coalescent framework is further extended to arbitrary time-varying population size, enabling insights into past demography across a wide temporal range.
ER -