Somatic variants

Biomarker

2 papers

Humans1

Latest

11 in 12 months

Current Opinion in Genetics & DevelopmentYesterday

Update on somatic mutations in major neurodegenerative diseases: mutational signatures in neurons and mosaicism

ReviewMechanisms

Paper

Nature CommunicationsYesterday

Blood stem-cell mutations linked to serious bacterial infections

In an analysis of 889,215 people, clonal blood mutations were associated with serious bacterial infections, with a hazard ratio of 1.22.In an analysis of 889,215 people, clonal blood mutations were associated with serious bacterial infections, with a hazard ratio of 1.22.

Cohort study of 889,215 peopleMechanisms

Paper

Epilepsia8 Oct

Deep whole genome sequencing of epileptogenic brain lesions

Genetic association study of 33 peopleMechanisms

Paper

bioRxiv2 Oct

Single-neuron sequencing reveals widespread low-frequency somatic mutations in dementia brains

Human neurons from frontotemporal lobar degeneration patients showed ultra-low-frequency TARDBP variants that were less abundant in individuals who died at older ages.Human neurons from frontotemporal lobar degeneration patients showed ultra-low-frequency TARDBP variants that were less abundant in individuals who died at older ages.

Preprint: case-control study in peopleMechanisms

Paper

medRxiv23 Sep