Estimating evolutionary and demographic parameters via ARG-derived IBD
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 a...
| Main Authors: | , , , |
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| Format: | Journal article |
| Language: | English |
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Public Library of Science
2025
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| _version_ | 1824458878991990784 |
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| author | Huang, Z Kelleher, J Chan, Y Balding, D |
| author_facet | Huang, Z Kelleher, J Chan, Y Balding, D |
| author_sort | Huang, Z |
| collection | OXFORD |
| description | 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. For IBD inferred from real data, we propose an approximate Bayesian computation inference algorithm and use it to show that even poorly-inferred short IBD segments can improve estimation. Our mutation-rate estimator achieves precision similar to a previously-published method despite a 4 000-fold reduction in data used for inference, and we identify significant differences between human populations. Computational cost limits model complexity in our approach, but we are able to incorporate unknown nuisance parameters and model misspecification, still finding improved parameter inference. |
| first_indexed | 2025-02-19T04:32:54Z |
| format | Journal article |
| id | oxford-uuid:457d5341-aa84-4b45-893f-cf859c394efa |
| institution | University of Oxford |
| language | English |
| last_indexed | 2025-02-19T04:32:54Z |
| publishDate | 2025 |
| publisher | Public Library of Science |
| record_format | dspace |
| spelling | oxford-uuid:457d5341-aa84-4b45-893f-cf859c394efa2025-01-21T20:25:09ZEstimating evolutionary and demographic parameters via ARG-derived IBDJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:457d5341-aa84-4b45-893f-cf859c394efaEnglishJisc Publications RouterPublic Library of Science2025Huang, ZKelleher, JChan, YBalding, DInference 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. For IBD inferred from real data, we propose an approximate Bayesian computation inference algorithm and use it to show that even poorly-inferred short IBD segments can improve estimation. Our mutation-rate estimator achieves precision similar to a previously-published method despite a 4 000-fold reduction in data used for inference, and we identify significant differences between human populations. Computational cost limits model complexity in our approach, but we are able to incorporate unknown nuisance parameters and model misspecification, still finding improved parameter inference. |
| spellingShingle | Huang, Z Kelleher, J Chan, Y Balding, D Estimating evolutionary and demographic parameters via ARG-derived IBD |
| title | Estimating evolutionary and demographic parameters via ARG-derived IBD |
| title_full | Estimating evolutionary and demographic parameters via ARG-derived IBD |
| title_fullStr | Estimating evolutionary and demographic parameters via ARG-derived IBD |
| title_full_unstemmed | Estimating evolutionary and demographic parameters via ARG-derived IBD |
| title_short | Estimating evolutionary and demographic parameters via ARG-derived IBD |
| title_sort | estimating evolutionary and demographic parameters via arg derived ibd |
| work_keys_str_mv | AT huangz estimatingevolutionaryanddemographicparametersviaargderivedibd AT kelleherj estimatingevolutionaryanddemographicparametersviaargderivedibd AT chany estimatingevolutionaryanddemographicparametersviaargderivedibd AT baldingd estimatingevolutionaryanddemographicparametersviaargderivedibd |