What if we could inducibly create thousands of structural variants and ecDNAs in human cells and see which ones survive? biorxiv.org/content/10.110… I’m excited to share our story on scrambling the human genome by combining prime editing, repetitive elements, and recombinases. A🧵

A study has shown children with #epilepsy, who had psychological treatment with their physical health care, struggled far less with their mental health. Dr Isobel Heyman says this highlights the importance of the Cambridge Children's Hospital vision for integrated care 👉tinyurl.com/yv77zpry

Excited to finally have this preprinted: Deep indel mutagenesis reveals the regulatory and modulatory architecture of alternative exon splicing by ⁦Pablo Baeza Centurion⁩ and many. ⁦Centre for Genomic Regulation (CRG)⁩ ⁦Wellcome Sanger Institute⁩ biorxiv.org/content/10.110…

Excited to share Taraneh's preprint: A complete map of specificity encoding for a partially fuzzy protein interaction biorxiv.org/content/10.110…

Stellar plenary from Kaitlin Samocha on the @gnomAD_project v4 release at #eshg2024. It is, she notes, a remarkable time to be a human genomicist: many available datasets with >100K sequenced people. However, still massive under-representation of non-European ancestry.

Great quote Kaitlin Samocha #eshg2024! average of 7 pathogenic variants per individual in Genome Aggregation Database v4. Mostly for AR conditions but 734 LoF variants in 77 haploinsufficient genes. Dig deeper and 70% do not truly result in LoF: manual #curation important!

In support of #RareChromoDay (and inspired by James Fasham - I forgot I had this cutter! ) 🧬🍪 Keep up the incredible work Unique Sarah Wynn - you make a difference to so many ❤️

Generating a hypothesis is a supremely creative act. It requires the scientist to imagine alternative realities that explain the world around them. These can then be tested through experiment and observation.

Many congratulations Julia! Great to see you taking on this important new role! 🎉

New paper out in Genome Biology! 🎉 We lay out best-practice guidelines for releasing variant effect predictors, developed through the Atlas of Variant Effects Alliance Atlas of Variant Effects Alliance Open, interpretable, and clinically useful VEPs are the goal. 📄 doi.org/10.1186/s13059…

Proud of my (recently graduate) student Teng Hiang for her first PhD paper, out today in AJHG . She studied recessive effects across diseases in ~44k British South Asians from the @GenesHealth and found 185 independent hits, >40% of which are novel cell.com/ajhg/pdfExtend….

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 nature.com/articles/s4158…