[HTML][HTML] Deleterious variation in natural populations and implications for conservation genetics

J Robinson, CC Kyriazis, SC Yuan… - Annual review of …, 2023 - annualreviews.org
Deleterious mutations decrease reproductive fitness and are ubiquitous in genomes. Given
that many organisms face ongoing threats of extinction, there is interest in elucidating the …

[PDF][PDF] Deep learning in population genetics

K Korfmann, OE Gaggiotti… - Genome Biology and …, 2023 - academic.oup.com
Population genetics is transitioning into a data-driven discipline thanks to the availability of
large-scale genomic data and the need to study increasingly complex evolutionary …

Efficient ancestry and mutation simulation with msprime 1.0

F Baumdicker, G Bisschop, D Goldstein, G Gower… - Genetics, 2022 - academic.oup.com
Stochastic simulation is a key tool in population genetics, since the models involved are
often analytically intractable and simulation is usually the only way of obtaining ground-truth …

[HTML][HTML] Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

D Taliun, DN Harris, MD Kessler, J Carlson… - Nature, 2021 - nature.com
Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …

[HTML][HTML] Human demographic history impacts genetic risk prediction across diverse populations

AR Martin, CR Gignoux, RK Walters, GL Wojcik… - The American Journal of …, 2017 - cell.com
The vast majority of genome-wide association studies (GWASs) are performed in
Europeans, and their transferability to other populations is dependent on many factors (eg …

A unified genealogy of modern and ancient genomes

AW Wohns, Y Wong, B Jeffery, A Akbari, S Mallick… - Science, 2022 - science.org
The sequencing of modern and ancient genomes from around the world has revolutionized
our understanding of human history and evolution. However, the problem of how best to …

[HTML][HTML] Creating artificial human genomes using generative neural networks

B Yelmen, A Decelle, L Ongaro, D Marnetto… - PLoS …, 2021 - journals.plos.org
Generative models have shown breakthroughs in a wide spectrum of domains due to recent
advancements in machine learning algorithms and increased computational power. Despite …

[HTML][HTML] Detecting adaptive introgression in human evolution using convolutional neural networks

G Gower, PI Picazo, M Fumagalli, F Racimo - Elife, 2021 - elifesciences.org
Studies in a variety of species have shown evidence for positively selected variants
introduced into a population via introgression from another, distantly related population—a …

An overview of current population genomics methods for the analysis of whole‐genome resequencing data in eukaryotes

YXC Bourgeois, BH Warren - Molecular Ecology, 2021 - Wiley Online Library
Characterizing the population history of a species and identifying loci underlying local
adaptation is crucial in functional ecology, evolutionary biology, conservation and …

[HTML][HTML] Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits

RA Patel, SA Musharoff, JP Spence, H Pimentel… - The American Journal of …, 2022 - cell.com
Despite the growing number of genome-wide association studies (GWASs), it remains
unclear to what extent gene-by-gene and gene-by-environment interactions influence …