iHDSel software: The price equation and the population stability index to detect genomic patterns compatible with selective sweeps. An example with SARS-CoV-2 DOI Creative Commons
Antonio Carvajal‐Rodríguez

Biology Methods and Protocols, Journal Year: 2024, Volume and Issue: 9(1)

Published: Jan. 1, 2024

Abstract A large number of methods have been developed and continue to evolve for detecting the signatures selective sweeps in genomes. Significant advances made, including combination different statistical strategies incorporation artificial intelligence (machine learning) methods. Despite these advances, several common problems persist, such as unknown null distribution statistics used, necessitating simulations resampling assign significance statistics. Additionally, it is not always clear how deviations from specific assumptions each method might affect results. In this work, allelic classes haplotypes are used along with informational interpretation Price equation design a statistic known that can detect genomic patterns caused by sweeps. The consists Jeffreys divergence, also population stability index, applied two samples. Results simulated data show optimal performance divergent selection. Analysis real severe acute respiratory syndrome coronavirus 2 genome shows some sites playing key roles virus’s fitness immune escape capability detected method. new statistic, called JHAC, incorporated into iHDSel (informed HacDivSel) software available at https://acraaj.webs.uvigo.es/iHDSel.html.

Language: Английский

Inferring the demographic history of aye-ayes (Daubentonia madagascariensis) from high-quality, whole-genome, population-level data DOI Creative Commons
John W. Terbot, Vivak Soni, Cyril J. Versoza

et al.

Genome Biology and Evolution, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 3, 2025

Abstract The nocturnal aye-aye, Daubentonia madagascariensis, is one of the most elusive lemurs on island Madagascar. timing its activity and arboreal lifestyle has generally made it difficult to obtain accurate assessments population size using traditional census methods. Therefore, alternative estimates provided by genetic inference are essential for yielding much needed information conservation measures enabling ecological evolutionary studies this species. Here, we utilize genomic data from 17 individuals—including 5 newly sequenced, high-coverage genomes—to estimate history. Essential estimation recently published annotations aye-aye genome which allow variation at putatively neutral regions be included in procedures, subject selective constraints, or linkage such sites, excluded owing biasing effects selection demographic inference. By comparing a variety tools develop well-supported model history, find strong support two demes, separating northern Madagascar rest island. Additionally, that experienced severe reductions size. first occurred rapidly, approximately 3,000 5,000 years ago, likely corresponded with arrival humans second over past few decades related substantial habitat loss, suggesting species still undergoing decline remains great risk extinction.

Language: Английский

Citations

1

Estimating the distribution of fitness effects in aye-ayes (Daubentonia madagascariensis), accounting for population history as well as mutation and recombination rate heterogeneity DOI Open Access
Vivak Soni, Cyril J. Versoza, Susanne P. Pfeifer

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 3, 2025

ABSTRACT The distribution of fitness effects (DFE) characterizes the range selection coefficients from which new mutations are sampled, and thus holds a fundamentally important role in evolutionary genomics. To date, DFE inference primates has been largely restricted to haplorrhines, with limited data availability leaving other suborder primates, strepsirrhines, under-explored. advance our understanding population genetics this taxonomic group, we here map exonic divergence aye-ayes ( Daubentonia madagascariensis ) – only extant member Daubentoniidae family Strepsirrhini suborder. We further infer highly-endangered species, utilizing recently published high-quality annotated reference genome, well-supported model demographic history, as well both direct indirect estimates underlying mutation recombination rates. inferred is generally characterized by greater proportion deleterious relative humans, providing evidence larger long-term effective size. In addition however, immune-related sensory-related genes were found be amongst most rapidly evolving aye-aye genome.

Language: Английский

Citations

1

Temporal challenges in detecting balancing selection from population genomic data DOI Creative Commons
Vivak Soni, Jeffrey D. Jensen

G3 Genes Genomes Genetics, Journal Year: 2024, Volume and Issue: 14(6)

Published: March 29, 2024

Abstract The role of balancing selection in maintaining genetic variation remains an open question population genetics. Recent years have seen numerous studies identifying candidate loci potentially experiencing selection, most predominantly human populations. There are however alternative evolutionary processes that may leave similar patterns variation, thereby confounding inference, and the expected signatures additionally change a temporal fashion. Here we use forward-in-time simulations to quantify statistical power detect using both site frequency spectrum- linkage disequilibrium-based methods under variety evolutionarily realistic null models. We find whilst spectrum-based little immediately after balanced mutation begins segregating, increases with time since introduction allele. Conversely, considerable allele is young, dissipates rapidly as increases. Taken together, this suggests effective at detecting long-term (>25N generations allele) over much shorter timescales (<1N generations), leaving large frame which current action selection. Finally, investigate extent mimic these patterns, demonstrate need for caution attempting distinguish from those neutral (e.g. structure admixture) well selective partial sweeps).

Language: Английский

Citations

6

Inferring demographic and selective histories from population genomic data using a two-step approach in species with coding-sparse genomes: an application to human data DOI Creative Commons
Vivak Soni, Jeffrey D. Jensen

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Sept. 22, 2024

The demographic history of a population, and the distribution fitness effects (DFE) newly arising mutations in functional genomic regions, are fundamental factors dictating both genetic variation evolutionary trajectories. Although DFE inference has been performed extensively humans, these approaches have generally either limited to simple models involving single or, where complex population inferred, without accounting for potentially confounding selection at linked sites. Taking advantage coding-sparse nature genome, we propose 2-step approach which coalescent simulations first used infer multi-population model, utilizing large non-functional regions that likely free from background selection. We then use forward-in-time perform conditional on demography inferred expected estimation procedure. Throughout, recombination mutation rate maps were account underlying empirical heterogeneity across human genome. Importantly, within this framework it is possible utilize fit multiple aspects data, scheme represents generalized such large-scale species with genomes.

Language: Английский

Citations

6

Population genetic considerations regarding the interpretation of within-patient SARS-CoV-2 polymorphism data DOI Creative Commons
Vivak Soni, John W. Terbot, Jeffrey D. Jensen

et al.

Nature Communications, Journal Year: 2024, Volume and Issue: 15(1)

Published: April 16, 2024

Language: Английский

Citations

4

iHDSel software: The price equation and the population stability index to detect genomic patterns compatible with selective sweeps. An example with SARS-CoV-2 DOI Creative Commons
Antonio Carvajal‐Rodríguez

Biology Methods and Protocols, Journal Year: 2024, Volume and Issue: 9(1)

Published: Jan. 1, 2024

Abstract A large number of methods have been developed and continue to evolve for detecting the signatures selective sweeps in genomes. Significant advances made, including combination different statistical strategies incorporation artificial intelligence (machine learning) methods. Despite these advances, several common problems persist, such as unknown null distribution statistics used, necessitating simulations resampling assign significance statistics. Additionally, it is not always clear how deviations from specific assumptions each method might affect results. In this work, allelic classes haplotypes are used along with informational interpretation Price equation design a statistic known that can detect genomic patterns caused by sweeps. The consists Jeffreys divergence, also population stability index, applied two samples. Results simulated data show optimal performance divergent selection. Analysis real severe acute respiratory syndrome coronavirus 2 genome shows some sites playing key roles virus’s fitness immune escape capability detected method. new statistic, called JHAC, incorporated into iHDSel (informed HacDivSel) software available at https://acraaj.webs.uvigo.es/iHDSel.html.

Language: Английский

Citations

0