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...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2025-01-01
|
| Series: | PLoS Genetics |
| Online Access: | https://doi.org/10.1371/journal.pgen.1011537 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849724253149069312 |
|---|---|
| author | Zhendong Huang Jerome Kelleher Yao-Ban Chan David Balding |
| author_facet | Zhendong Huang Jerome Kelleher Yao-Ban Chan David Balding |
| author_sort | Zhendong Huang |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-d8a3397368a7413b9a408ce81075f64b |
| institution | DOAJ |
| issn | 1553-7390 1553-7404 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS Genetics |
| spelling | doaj-art-d8a3397368a7413b9a408ce81075f64b2025-08-20T03:10:47ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042025-01-01211e101153710.1371/journal.pgen.1011537Estimating evolutionary and demographic parameters via ARG-derived IBD.Zhendong HuangJerome KelleherYao-Ban ChanDavid BaldingInference 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.https://doi.org/10.1371/journal.pgen.1011537 |
| spellingShingle | Zhendong Huang Jerome Kelleher Yao-Ban Chan David Balding Estimating evolutionary and demographic parameters via ARG-derived IBD. PLoS Genetics |
| 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 |
| url | https://doi.org/10.1371/journal.pgen.1011537 |
| work_keys_str_mv | AT zhendonghuang estimatingevolutionaryanddemographicparametersviaargderivedibd AT jeromekelleher estimatingevolutionaryanddemographicparametersviaargderivedibd AT yaobanchan estimatingevolutionaryanddemographicparametersviaargderivedibd AT davidbalding estimatingevolutionaryanddemographicparametersviaargderivedibd |