Molly Przeworski

The paper develops a population genetic model to analyze mutator alleles in humans, showing that most known mutators are consistent with purifying selection, but one variant remains unexplained.

The paper identifies de novo mutations in siblings and finds no differences in mutation rates by ancestry or smoking status, but links disruptions in REV1 and LIG1 to increased germline mutation rates.

The paper reviews patterns and theories on how natural selection shapes mutation rates in animal germline and somatic cells across species.

The paper investigates sex differences in germline mutation rates linked to transcription, finding distinct associations in males and females across different germline stages.

The paper reassesses evidence for long-lived balancing selection in humans by analyzing shared polymorphisms between humans and chimpanzees, finding most likely arose by chance rather than selection.

The paper identifies SBS5 as a mutational signature resulting from DNA damage and repair errors across cell types, showing it is a common output of multiple mutagenic processes.

The paper argues that highly deleterious variants are similarly distributed across human ancestry groups and shows that loss of function alleles at constrained genes conform to mutation-drift-selection balance predictions.

This study estimates mutation and recombination parameters in zebra finches, finding similarities to mammals despite differences in genome structure and recombination mechanisms.

This paper shows that family-based GWAS estimates are not generally unbiased for average causal effects but can provide insights into Mendelian segregation's contribution to population-level trait variance.

The paper develops a mathematical model to disentangle the sources of clock-like mutations in germline and soma, finding distinct origins for SBS signatures 1 and 5.

The paper estimates the fitness costs of loss-of-function mutations in humans and relates them to disease severity and study design.

The paper shows that polygenic scores have varying prediction accuracy within a single ancestry group based on factors like age, sex, and GWAS study design.

The paper analyzes de novo mutations in three-generation CEPH families to show variability in mutation rates and identifies post-zygotic mosaicism as a source of de novo mutations.

The paper analyzes low-frequency variants in gnomAD data to identify mutation patterns linked to replication timing, recombination, and sex differences on the X chromosome and autosomes.

The paper challenges the textbook view of germline mutations by showing that DNA damage and maternal age significantly contribute to mutation rates, with young fathers contributing more mutations than young mothers.

The paper explains that population genetic measures like pLI reflect selection on heterozygotes, not dominance or haploinsufficiency.

The paper examines the frequencies of recessive lethal mutations in human populations and finds they are higher than expected, suggesting ascertainment bias rather than mutation-selection balance.

The paper examines the challenges in translating germline mutation rates from pedigrees to substitution rates, highlighting the need for detailed knowledge of mutation accumulation in development.

This paper introduces a genetic method using the recombination clock to date ancient human samples, showing it provides reliable age estimates for non-African genomes with Neanderthal ancestry.

The paper analyzes substitution rates across primate genomes and finds significant variation in molecular clocks between species and within hominoids, with CpG transitions showing more clock-like behavior.