#SomaticMutations

One Health Genomics Edinburgh

@onehealthgenomics.bsky.social

1 month ago

New Publication:
Spectrum and Impact of Mitochondrial DNA Mutations in Ovarian Cancer

@uoe-igc.bsky.social @cruk-si.bsky.social @csemple.bsky.social

#mitochondrialDNA #somaticmutations #ovariancancer #geneediting

www.mdpi.com/1422-0067/26...

Javier Santoyo

@jsantoyo.bsky.social

3 months ago

SomaMutDB 2.0: A comprehensive database for exploring somatic mutations and their functional impact in normal human tissues. #SomaticMutations #HumanTissues #NAR @narjournal.bsky.social 🧪🧬 🖥️
academic.oup.com/nar/advance-...

Javier Santoyo

@jsantoyo.bsky.social

4 months ago

A telomere-to-telomere map of somatic mutation burden and functional impact in cancer. #T2T #SomaticMutations #CancerGenetics #Genomics @biorxiv-genomic.bsky.social
www.biorxiv.org/content/10.1...

praying mantis

@gentlem.bsky.social

6 months ago

Identical twin convicted based on DNA differences in first US case of its kind — Guardian US In the Virginia case, rare genetic mutations distinguished identical twins in DNA analysis

apple.news/A2YHl3upbQ9S...
#DNA-identicaltwins
Forensic science can tell the difference between identical twins.
#somaticmutations
I can too, not because of DNA sequencing but because I am a twin. Not identical, but innately attuned to small differences.

The Innovation

@theinnovation.bsky.social

6 months ago

This study shows that DNA-mismatch-repair-deficient cell populations maintain high growth rates despite a high SNV burden of at least 50,000 mutations per cell. In these cells, the INDEL burden plateaus at approximately 16,000 per cell.
doi.org/10.1016/j.xi...
#SomaticMutations #CellularAging