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Certain mutational signatures vary in their contribution to genetic variation across the yeast phylogeny due to genetically encoded natural mutator phenotypes whose activity can be directly measured in the lab.

UPF1 mutations were reportedly present at high frequencies in a cohort of pancreatic adenosquamous carcinoma patients, but these lesions are unlikely to be functional drivers of this cancer subtype.

Comparative analysis establishes genetic links among angioimmunoblastic T-cell lymphoma (AITL), clonal hematopoiesis, and concomitant hematologic malignancies, and provides insights into the cell of origin, etiology, and biomarker discovery for AITL.

Characterisation of within-host diversity of SARS-CoV-2 provides insights into the mutational and selective mechanisms driving its evolution and has important implications for using within-host variation to inform transmission inference efforts.

Base editors, with improved specificity and expanded PAM sequence recognition, can be used in zebrafish for the rapid and efficient introduction of single base pair mutations.

Mapping mutations affecting gene expression within the yeast genome and within a gene regulatory network reveals properties of the raw material for regulatory variation.

Study of human, knockout mice, and in-vitro models revealed CEP78 absence is the genetical cause of cone-rod dystrophy and male infertility with multiple morphological abnormalities of sperm flagella, CEP78 interacted with IFT20 and TTC21A to modulate cilliogenesis and centriole length.

The newly discovered Titin internal promoter may explain why the severity of dilated cardiomyopathy in patients with truncating mutations in Titin varies dramatically depending on position of the mutation.

When mismatch repair is compromised heterozygous loss of Pol ε proofreading is sufficient to drive a subset of the observed clinical characteristics of Pol ε tumors.

Eukaryotic pathogens, like Cryptococcus deuterogattii, can use elevated mutation rates to more rapidly adapt to stresses, such as drug challenges, but at the cost of lower fitness in less stressful environments.