The Evolutionary Interplay of Somatic and Germline Mutation Rates

AC Beichman, L Zhu, K Harris - Annual Review of Biomedical …, 2024 - annualreviews.org
Novel sequencing technologies are making it increasingly possible to measure the mutation
rates of somatic cell lineages. Accurate germline mutation rate measurement technologies …

The mutagenic consequences of defective DNA repair

E Németh, D Szüts - DNA repair, 2024 - Elsevier
Multiple separate repair mechanisms safeguard the genome against various types of DNA
damage, and their failure can increase the rate of spontaneous mutagenesis. The …

NeMu: a comprehensive pipeline for accurate reconstruction of neutral mutation spectra from evolutionary data

B Efimenko, K Popadin, K Gunbin - Nucleic Acids Research, 2024 - academic.oup.com
The recognized importance of mutational spectra in molecular evolution is yet to be fully
exploited beyond human cancer studies and model organisms. The wealth of intraspecific …

k-mer-based approaches to bridging pangenomics and population genetics

MD Roberts, O Davis, EB Josephs… - arXiv preprint arXiv …, 2024 - arxiv.org
Many commonly studied species now have more than one chromosome-scale genome
assembly, revealing a large amount of genetic diversity previously missed by approaches …

The evolution and convergence of mutation spectra across mammals

A Talenti, T Wilkinson, LJ Morrison, JGD Prendergast - bioRxiv, 2023 - biorxiv.org
Despite the key role genetic mutations play in shaping phenotypic differences between
species, little is currently known about the evolution of germline mutation spectra across …

Robust inference of historical human generation times

RJ Wang, J Rogers, MW Hahn - bioRxiv, 2023 - biorxiv.org
Abstract raise concerns about our recent estimates of historical human generation times,
concluding that our results were “predominantly driven by nonbiological artifacts.” While we …

Characterizing Mutagenesis Across Developmental Time with single-cell indexing (sci) ATAC-seq

YC Pan - 2024 - search.proquest.com
Mutations in DNA are caused by replication errors or exposure to mutagen that damage the
DNA repair mechanisms. Germline variants are mutations that occur in germ cells and can …

Modeling Mutation Rate Variation over Time Using Bayesian Sequence Context Mutational Trees

CJ Adams - 2023 - search.proquest.com
Germline mutation is the mechanism by which genetic variation in a population is created. It
follows that mutation rate models are fundamental to population genetic inference …