Biological relatedness is a key consideration in studies of behavior, population structure, and trait evolution. Except for parent-offspring dyads, pedigrees capture relatedness imperfectly. The number and length of identical-by-descent DNA segments (IBD) yield the most precise relatedness estimates. Here, we leverage different methods for estimating IBD segments from low-depth whole genome resequencing data to demonstrate the feasibility and value of resolving fine-scaled gradients of relatedness in free-living animals. Using primarily 4 to 6× depth data from a rhesus macaque () population with long-term pedigree data, we show that we can infer the number and length of IBD segments across the genome with high accuracy even at 0.5× sequencing depth. In line with expectations based on simulation, the resulting estimates demonstrate substantial variation in genetic relatedness within kin classes, leading to overlapping distributions between kin classes. By comparing the IBD-based estimates with pedigree and short tandem repeat-based methods, we show that IBD estimates are more reliable and provide more detailed information on kinship. The inferred IBD segments also identify cryptic genetic relatives not represented in the pedigree and reveal elevated recombination rates in females relative to males, which enables the majority of close maternal and paternal kin to be distinguished with genotype data alone. Our findings represent a breakthrough in the ability to study the predictors and consequences of genetic relatedness in natural populations, contributing to our understanding of a fundamental component of population structure in the wild.
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http://dx.doi.org/10.1073/pnas.2401106122 | DOI Listing |
Proc Natl Acad Sci U S A
January 2025
Department of Primate Behavioral Ecology, Institute of Biology, Leipzig University, Leipzig 04103, Germany.
Biological relatedness is a key consideration in studies of behavior, population structure, and trait evolution. Except for parent-offspring dyads, pedigrees capture relatedness imperfectly. The number and length of identical-by-descent DNA segments (IBD) yield the most precise relatedness estimates.
View Article and Find Full Text PDFPLoS Genet
January 2025
Melbourne Integrative Genomics, School of Mathematics & Statistics, University of Melbourne, Victoria, Australia.
Inference of evolutionary and demographic parameters from a sample of genome sequences often proceeds by first inferring identical-by-descent (IBD) genome segments. By exploiting efficient data encoding based on the ancestral recombination graph (ARG), we obtain three major advantages over current approaches: (i) no need to impose a length threshold on IBD segments, (ii) IBD can be defined without the hard-to-verify requirement of no recombination, and (iii) computation time can be reduced with little loss of statistical efficiency using only the IBD segments from a set of sequence pairs that scales linearly with sample size. We first demonstrate powerful inferences when true IBD information is available from simulated data.
View Article and Find Full Text PDFMol Ecol Resour
January 2025
Unit of Animal Genomics, GIGA-R & Faculty of Veterinary Medicine, University of Liège, Liège, Belgium.
In populations of small effective size (N), such as those in conservation programmes, companion animals or livestock species, inbreeding control is essential. Homozygosity-by-descent (HBD) segments provide relevant information in that context, as they allow accurate estimation of the inbreeding coefficient, provide locus-specific information and their length is informative about the "age" of inbreeding. Our objective was to evaluate tools for predicting HBD in future offspring based on parental genotypes, a problem equivalent to identifying segments identical-by-descent (IBD) among the four parental chromosomes.
View Article and Find Full Text PDFSci Rep
January 2025
Departament de Medicina i Ciències de la Vida, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Dr. Aiguader 88, Barcelona, 08003, Catalonia, Spain.
Ibiza (Eivissa) is one of the main Balearic Islands in the western Mediterranean. Recent studies have highlighted the genetic distinctiveness of present-day Eivissans within the region and suggested it could be attributed to the genetic drift caused by recent demographic events. Whether this distinctiveness emerged from a differential demographic history, or rather from a bias for sampling in a small geographic region such as Eivissa, remains an open question, together with the understanding of the functional consequences of demography in the island.
View Article and Find Full Text PDFDig Dis Sci
December 2024
OHDSI Collaborators, Observational Health Data Sciences and Informatics (OHDSI), New York, NY, USA.
Background And Aims: Observational healthcare data are an important tool for delineating patients' inflammatory bowel disease (IBD) journey in real-world settings. However, studies that characterize IBD cohorts typically rely on a single resource, apply diverse eligibility criteria, and extract variable sets of attributes, making comparison between cohorts challenging. We aim to longitudinally describe and compare IBD patient cohorts across multiple geographic regions, employing unified data and analysis framework.
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