Somatic mutations
Biomarker3 papers
- Humans2
Latest
12Somatic mutations track age in reef-building corals
Whole-genome sequencing of eight coral colonies showed somatic mutations followed power-law distributions, faced purifying selection, and helped age a…Whole-genome sequencing of eight coral colonies showed somatic mutations followed power-law distributions, faced purifying selection, and helped age a colony to nearly a century.
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…Human neurons from frontotemporal lobar degeneration patients showed ultra-low-frequency TARDBP variants that were less abundant in individuals who died at older ages.
Performance of a multi-biomarker class, multi-cancer early detection (MCED) blood test in a prospectively collected cohort
Human neurons accumulate far more mutations over lifespan than shorter-lived mammals
Cortical neurons gain mutations at similar yearly rates across six species, leaving aged humans with uniquely high mutational burdens and…Cortical neurons gain mutations at similar yearly rates across six species, leaving aged humans with uniquely high mutational burdens and transcriptomic dysregulation.
Inherited and somatic components in the pathogenetics of common diseases
Clonal hematopoiesis is linked to frailty in human cohorts
An analysis of 730,088 participants across four cohorts found clonal hematopoiesis was strongly associated with incident frailty and faster functional…An analysis of 730,088 participants across four cohorts found clonal hematopoiesis was strongly associated with incident frailty and faster functional decline.
ASXL1-mutant clonal hematopoiesis links to aortic valve disease
In cohort data and cell models, ASXL1 mutations tracked with incident aortic stenosis and promoted valvular calcification that was reduced by IL-1 or…In cohort data and cell models, ASXL1 mutations tracked with incident aortic stenosis and promoted valvular calcification that was reduced by IL-1 or IL-6 inhibition.