Serena Nik-Zainal Profile picture
Professor of Genomic Medicine | #NHS | needs regular snacks | delivers an effective roundhouse kick | Though she be but little, she is fierce
Aug 11, 2022 β€’ 18 tweets β€’ 9 min read
PAPER OUT!! πŸ₯³πŸ˜

Let me share a #tweetorial
about how a nerd moment πŸ€“when @foad_rouhani & I were PhD students >10yrs ago (!)
has (finally) arrived @NatureGenet
with implications in using #hiPSCs in clinical studies & research modelling

1/
nature.com/articles/s4158… A 22 yr old patient provided us with 2 skin fibroblast-derived IPSCs (F-hiPSCs) and 2 blood-derived (B-hiPSCs).

πŸ€“: Do they differ genetically if they have differing origins?

Yep. The mutational load in F-hiPSCs was way more than in B-hiPSCs. Largely due to UV.

2/
Feb 17, 2020 β€’ 15 tweets β€’ 8 min read
Our paper is out! 😊
Showcasing the complexity of #mutationalsignatures

A practical framework and online tool for mutational signature analyses show intertissue variation and driver dependencies ⁦@NatureCancer⁩
πŸ‘‡
1/ nature.com/articles/s4301… We compare and contrast components of analytical steps in signatures analysis and suggest a practical framework for seeking Mutational signatures in tens to hundreds of tumour samples.

2/