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 …

Scaling the discrete-time Wright–Fisher model to biobank-scale datasets

JP Spence, T Zeng, H Mostafavi, JK Pritchard - Genetics, 2023 - academic.oup.com
Abstract The discrete-time Wright–Fisher (DTWF) model and its diffusion limit are central to
population genetics. These models can describe the forward-in-time evolution of allele …

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 …

Latent mutations in the ancestries of alleles under selection

WTL Fan, J Wakeley - Theoretical Population Biology, 2024 - Elsevier
We consider a single genetic locus with two alleles A 1 and A 2 in a large haploid
population. The locus is subject to selection and two-way, or recurrent, mutation. Assuming …

The effect of mutation subtypes on the allele frequency spectrum and population genetics inference

K Liao, J Carlson, S Zöllner - G3: Genes, Genomes, Genetics, 2023 - academic.oup.com
Population genetics has adapted as technological advances in next-generation sequencing
have resulted in an exponential increase of genetic data. A common approach to efficiently …

Statistical and Machine Learning Methods for the Analysis of Summary Statistics Derived from Large Genomic Datasets

K Liao - 2023 - deepblue.lib.umich.edu
Advancements in DNA sequencing over the past decade have transformed our ability to
characterize genetic variation in large populations and study the genetics of many complex …

[PDF][PDF] PROBABILITY OF TREE CHANGES IN THE ANCESTRAL RECOMBINATION GRAPH

E AXINN - math.indiana.edu
We study the Ancestral Recombination Graph (ARG) and the Sequentially Markov
Coalescent'(SMC'). We first recall the algorithms of the ARG and SMC', providing concise …