The origin of human mutation in light of genomic data

VB Seplyarskiy, S Sunyaev - Nature Reviews Genetics, 2021 - nature.com
Despite years of active research into the role of DNA repair and replication in mutagenesis,
surprisingly little is known about the origin of spontaneous human mutation in the germ line …

Mutation bias and the predictability of evolution

AV Cano, BL Gitschlag… - … of the Royal …, 2023 - royalsocietypublishing.org
Predicting evolutionary outcomes is an important research goal in a diversity of contexts.
The focus of evolutionary forecasting is usually on adaptive processes, and efforts to …

Non-B DNA: a major contributor to small-and large-scale variation in nucleotide substitution frequencies across the genome

WM Guiblet, MA Cremona, RS Harris… - Nucleic Acids …, 2021 - academic.oup.com
Approximately 13% of the human genome can fold into non-canonical (non-B) DNA
structures (eg G-quadruplexes, Z-DNA, etc.), which have been implicated in vital cellular …

Interpreting differentiation landscapes in the light of long-term linked selection

R Burri - Evolution Letters, 2017 - academic.oup.com
Identifying genomic regions underlying adaptation in extant lineages is key to understanding
the trajectories along which biodiversity evolves. However, this task is complicated by …

A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription

V Seplyarskiy, EM Koch, DJ Lee, JS Lichtman… - Nature Genetics, 2023 - nature.com
De novo mutations occur at substantially different rates depending on genomic location,
sequence context and DNA strand. The success of methods to estimate selection intensity …

Population sequencing data reveal a compendium of mutational processes in the human germ line

VB Seplyarskiy, RA Soldatov, E Koch, RJ McGinty… - Science, 2021 - science.org
Biological mechanisms underlying human germline mutations remain largely unknown. We
statistically decompose variation in the rate and spectra of mutations along the genome …

What is mutation? A chapter in the series: How microbes “jeopardize” the modern synthesis

DM Fitzgerald, SM Rosenberg - PLoS genetics, 2019 - journals.plos.org
Mutations drive evolution and were assumed to occur by chance: constantly, gradually,
roughly uniformly in genomes, and without regard to environmental inputs, but this view is …

Genomic diversity landscapes in outcrossing and selfing Caenorhabditis nematodes

AA Teterina, JH Willis, M Lukac, R Jovelin… - PLoS …, 2023 - journals.plos.org
Caenorhabditis nematodes form an excellent model for studying how the mode of
reproduction affects genetic diversity, as some species reproduce via outcrossing whereas …

Large scale variation in the rate of germ-line de novo mutation, base composition, divergence and diversity in humans

TCA Smith, PF Arndt, A Eyre-Walker - PLoS genetics, 2018 - journals.plos.org
It has long been suspected that the rate of mutation varies across the human genome at a
large scale based on the divergence between humans and other species. However, it is now …

The impact of local genomic properties on the evolutionary fate of genes

Y Hara, S Kuraku - Elife, 2023 - elifesciences.org
Functionally indispensable genes are likely to be retained and otherwise to be lost during
evolution. This evolutionary fate of a gene can also be affected by factors independent of …