8/8 Our results point to a genome QC step in postmitotic neurons during a developmental window (potentially vulnerable in neurodevelopmental disease?) Fantastic work by co-first authors Diane Shao @_dianes_ and Yifan Zhao @yifnzhao; another amazing collab with @ChrisAWalsh1!
1/8 Abnormal neurons in the developing brain: ~26% of human fetal cortical neurons carry widespread, multi-chromosome CNVs. Most of these genomically aberrant neurons are eliminated right around birth, not gradually over a lifetime. 🧵https://t.co/SQAhAaxzvs @Nature
7/8 Mechanism: snATAC+snRNA-seq (44,861 nuclei) revealed a CNV-neuron subset with downregulated synaptic genes and upregulated apoptosis/autophagy, distinct from CNV progenitors.
Superb work from Hu Jin (@hujin2hujin2, developer of MuSiCal - Mutational Signature Calculator) and Benedikt Geiger (@geiger_benedikt). Much more in "Correlation-aware discovery of co-occurring mutational signatures in cancer" https://t.co/U3R2vjWfQs
Mutational signature analysis has become a standard tool in genome analysis. The underlying assumption for conventional NMF (non-negative matrix factorization) is that signatures act independently. But do they? SBS2/13 (APOBEC) usually co-occur, as do repair signatures and others
In tumors, Cornet found colibactin signature SBS88 in just 43 CRC genomes where NMF needed hundreds, uncovered tobacco signature SBS4 in bladder cancer (thought absent), and split composite signatures into their true components, including one tied to smoking + ERCC2 repair defect
Park Lab is hiring. We are recruiting postdoctoral fellows, post-bac analysts, and a bioinformatics scientist. https://t.co/3v3caMrt9t Due to the number of applicants, only those who send a short (2m) video are guaranteed a response.
Fig 1,2,4 were put together by Corinne Sexton and Hu Jin, with help from so many others in the Park lab and the Network. Raw data will be available from dbGaP shortly. Data portal: https://t.co/iVsKKejEJG (data release a bit delayed due to new NIH security requirements).
On biorxiv this week: "Integrated map of somatic mosaicism across human tissues in 25 individuals" from the Somatic Mosaicism across Human Tissues Network (https://t.co/xISaapWwl7)
Applying to BIG this fall?
Join our virtual information session next Thursday, October 30th, at 5pm ET to learn more. Register here: https://t.co/qImS9Y3rtU
One definition of consciousness is being responsible, careful, and the desire to do one's work or duty thoroughly. It is not surprising but is extremely worrisome.
NEW: Is the internet changing our personalities for the worse?
Conscientiousness and extroversion are down, neuroticism up, with young adults leading the charge.
This is a really consequential shift, and there’s a lot going on here, so let’s get into the weeds 🧵
The cells in our bodies constantly acquire mutations. But what are the patterns of mutations across tissues? How do mutations in normal cells lead to disease? These and other questions we will tackle within the SMaHT Network, now described in @Nature
https://t.co/5c1mfZOrOR