Somatically derived genomic mosaicism in the form of increased DNA content and APP copy number in single neurons plausibly has a function in sporadic Alzheimer’s disease and points to functions for single-neuron gene copy number changes.

The reanalysis of data from a recent study that claimed retrotransposon mutations are ubiquitous in the human brain outlines a general framework for the design and analysis of single-cell genomics studies.

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.

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.

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

A novel sequencing-based method to characterize CNBP microsatellite expansions in DM2 patients demonstrates benefits for an improved dissection of DM2 genetic architecture, thus potentially ameliorating patient stratification and genetic counseling.

Somatic instability of the CAG repeat increases progressively with age and disease progression in Huntington disease mutation carriers, starting with low levels in fetal brain tissues.

Highly efficient and confinable split gene drives are a new tool for the control of the dengue mosquito vector.

Malonyl-CoA, the rate-limiting substrate for fatty acid synthesis, is produced in the soma and delivered through gap junctions to the germline to promote reproduction and coordinate it with nutritional status.

Clonal heterozygosity for recessive disease alleles can elicit unexpected phenotypes in vivo, suggesting a new genetic concept relevant to understanding pathogenesis (deleterious heteromosaicism).