Computational Genomics and Its Applications to Anthropological Questions DOI Creative Commons
Kelsey E. Witt, Fernando A. Villanea

American Journal of Physical Anthropology, Journal Year: 2024, Volume and Issue: 186(S78)

Published: Dec. 1, 2024

ABSTRACT The advent of affordable genome sequencing and the development new computational tools have established a era genomic knowledge. Sequenced human genomes number in tens thousands, including thousands ancient genomes. abundance data has been met with analysis that can be used to understand populations' demographic evolutionary histories. Thus, variety methods now exist leveraged answer anthropological questions. This includes novel likelihood Bayesian methods, machine learning techniques, vast array population simulators. These provide powerful insights gained from datasets, although they are generally inaccessible those less experience. Here, we outline theoretical workings behind genomics limitations other considerations when applying these examples how already applied We hope this review will empower anthropologists utilize their own research.

Language: Английский

A whole-genome scan for evidence of recent positive and balancing selection in aye-ayes (Daubentonia madagascariensis) utilizing a well-fit evolutionary baseline model DOI Creative Commons
Vivak Soni, John W. Terbot, Cyril J. Versoza

et al.

Published: Nov. 11, 2024

The aye-aye (

Language: Английский

Citations

8

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

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

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

Published: June 3, 2024

A large number of methods have been developed and continue to be 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 SARS-CoV-2 genome shows some sites playing key roles virus's fitness immune escape capability detected method. new statistic, called JHAC, incorporated into iHDSel software available at https://acraaj.webs.uvigo.es/iHDSel.html.

Language: Английский

Citations

0

Long-term balancing selection maintains cryptic color polymorphism in frogs DOI Open Access
Sandra Goutte, Stéphane Boissinot

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

Published: Nov. 18, 2024

Color polymorphism can influence the evolutionary fate of cryptic species because it increases populations' chances survival in heterogenous or variable environments. Yet, little is known about molecular and mechanisms underlying persistence color polymorphisms, impact these polymorphisms have on macro-evolutionary dynamics lineages. Here, we examine history most widespread anurans, involving green brown morphs. Using an order-scale comparative analysis, show that morphs co-exist within over long periods time polymorphic lineages switch habitat more frequently greater diversification rates than other groups. We then identify locus responsible for green/brown a group African grass frogs, demonstrate this genomic region evolving under long-term balancing selection, resulting trans-specific polymorphism. These results provide micro-evolutionary mechanism observed at scale. This study highlights importance ecology evolution provides framework future research genetic architecture selective forces traits.

Language: Английский

Citations

0

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

Computational Genomics and Its Applications to Anthropological Questions DOI Creative Commons
Kelsey E. Witt, Fernando A. Villanea

American Journal of Physical Anthropology, Journal Year: 2024, Volume and Issue: 186(S78)

Published: Dec. 1, 2024

ABSTRACT The advent of affordable genome sequencing and the development new computational tools have established a era genomic knowledge. Sequenced human genomes number in tens thousands, including thousands ancient genomes. abundance data has been met with analysis that can be used to understand populations' demographic evolutionary histories. Thus, variety methods now exist leveraged answer anthropological questions. This includes novel likelihood Bayesian methods, machine learning techniques, vast array population simulators. These provide powerful insights gained from datasets, although they are generally inaccessible those less experience. Here, we outline theoretical workings behind genomics limitations other considerations when applying these examples how already applied We hope this review will empower anthropologists utilize their own research.

Language: Английский

Citations

0