TL;DR
The current state of knowledge about the impact of selection on human genomic diversity is reviewed and conceptual advances in the understanding of human evolution over the past 10,000 years are highlighted.
The relative importance of genetic drift versus selection to evolutionary change has long been debated. This debate has mainly focused over long-time-scales (e.g. hundreds of thousands of generations), leaving the question of short-term evolutionary change relatively unaddressed. Our knowledge about the effects of sele...
The development of large genetic biobanks with deep phenotyping and whole-exome or whole-genome sequencing is enabling an ever-deeper understanding of human evolution. Here we review recent developments in two main research directions: 1) using the increasing sample sizes to infer extremely strong evolutionary constrai...
It is found that marine species tend to have lower ROH content, while fossorial species show significantly higher inbreeding levels, which suggests that habitat and foraging strata are much stronger predictors of IUCN status than genetics.
This review aims to provide an overview of the methods currently employed to estimate effective population size from genomic data and to exemplify these methods by analyzing some simulated and empirical datasets.
It is argued that population genetics provides the mathematical framework needed to extract evolutionary dynamics from cancer genomes and it is shown how models of mutation, selection and drift transform allele frequencies from descriptive measurements into quantitative estimates of clonal fitness and evolutionary timi...
This Primer outlines the computational foundations of long-read whole-genome analysis in human genomics, spanning read processing, mapping, de novo assembly, multi-class variant detection, haplotype phasing, repeat analysis and epigenetic profiling, and highlights key analytical trade-offs between mapping-based and ass...
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