Rates of germline mutation accumulation are highly variable across families of similar genetic ancestry, and post-zygotic mosaicism is a substantial source of de novo mutations.

EncoreDNM identifies abundant enrichment correlations across disorders for de novo mutations.

Two novel mutations in the GRIN2B gene reduce glutamate affinity by >1000-fold, reduce the receptors proton-sensitivity, and exert a dominant-negative effect over receptors in neurons.

Single-cell RNA-sequencing and germline substitutions provide novel insights into how testis is a hotspot for evolutionary innovation of genes, expression, and mutation at the single-cell level.

Germline mutation rates in mice are shaped by two mutator alleles that interact epistatically, showing that DNA repair defects that map to different loci can have snowballing effects.

A female specifically expressed new protein-coding gene that has emerged out of non-coding sequences without detectable signatures of adaptive evolution affects female pregnancy cycles.

Systematic assessment of de novo variants in patients with sporadic inborn errors of immunity led to the identification of promising candidate variants in known and novel immune genes, supporting its implementation in the routine diagnostic evaluation of these patients.

The abundance of mosaic variants detected directly in sperm accurately predicts their transmission to concepti.

A novel Mendelian disease featuring early-onset hypertension is caused by a recurrent gain of function mutation in CACNA1H, which encodes the voltage-gated calcium channel Cav3.2.

Hybridization not only generates genetic diversity, but this diversity can alter the shape of the fitness landscape, changing which genotypic combinations are favored by natural selection and which accessible genotypic paths lead to novel fitness peaks.