Somatic mutational burden

Biomarker

1 paper studies it22 more mention it1 finding

Humans1

Associations

Alzheimer dementia

upin humans1

1 study

Alzheimer dementia is associated with somatic mutational burden in humans.
“AlzD individuals show increased mutational burden, localized in excitatory neurons, oligodendrocytes, astrocytes and disease-associated “senescent” cells.”
HumansAlzheimer's Dementiaprefrontal cortex
Single-cell mosaicism analysis reveals cell-type-specific somatic mutational burden in Alzheimer’s Dementia
bioRxiv (Cold Spring Harbor Laboratory)Apr 22, 2022Preprint

Latest

8 papers in 12 months

CellOct 16

Fuller DNA map reveals hidden mutations in a human melanoma

An analysis of one donor’s melanoma found 16% of acquired DNA variants in sequences absent from a conventional human reference genome.An analysis of one donor’s melanoma found 16% of acquired DNA variants in sequences absent from a conventional human reference genome.

Study in peopleMechanisms

Paper

arXivOct 15

Predicted gene responses vary more with age in a computer model

A computational analysis of single-cell gene activity data predicted increasingly different responses to disrupting the same gene at older ages.A computational analysis of single-cell gene activity data predicted increasingly different responses to disrupting the same gene at older ages.

Preprint: computational studyMechanisms

Paper

CellSep 9