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Our paper on the recessive contribution to developmental disorders from ~30,000 patients is now out at Nature Genetics nature.com/articles/s4158…. See Kartik Chundru's original tweetorial and summary of the improvements made throughout the review process.

Most undiagnosed developmental conditions due to recessive causes involve genes already discovered, finds the largest, most diverse study of its kind 🔍 Diagnosis rates could potentially double by focusing on these known genes, say researchers sanger.ac.uk/news_item/most…

📰 Read ‘Federated analysis of the contribution of autosomal recessive coding variants to 29,745 developmental disorder patients from diverse populations’ with Wellcome Sanger Institute Hilary Martin Kartik Chundru GeneDx University of Exeter in Nature Genetics ⤵️ nature.com/articles/s4158…

So Jeremy Farrar asked for an "explainer thread" on Noble Prizes in Chemistry around AlphaFold and Protein design, so here goes.

Jaydi’s bone marrow transplant may have saved her life. She’s among thousands to benefit from a genetic study which diagnosed children with rare genetic conditions. Read more on the Deciphering Developmental Disorders study outcomes: news.exeter.ac.uk/faculty-of-hea… Wellcome Sanger Institute

Thank you to the many clinicians, scientists, patients and families involved in the DDD study, Wellcome Sanger Institute Helen Firth Matt Hurles. A genetic diagnosis in rare diseases makes a huge difference to clinical management and patient outcomes, see: doi.org/10.1016/j.gimo…

Amazing coverage of DDD study on BBC News & BBC Inside Health, thanks James Gallagher. Genetic diagnosis changed management in 28% of patients. Humbling to hear about Jaydi's diagnosis & treatment, Exeter Med School Royal Devon NHS NHS SW Genomic Medicine Service Alliance Wellcome Sanger Institute bbc.co.uk/programmes/m00…

I am delighted to share our work on regional nonsense constraint in human protein coding genes! Now on @medRxiv: medrxiv.org/content/10.110… A quick 🧵 on what we found!

There's more in the preprint! You can find it at tinyurl.com/mr2mzm35. Regional constraint scores for MANE transcripts in all human protein coding genes are available here: tinyurl.com/444fjtaf And 🤞🤞 coming to the The DECIPHER Project browser soon!

Excited to share our new preprint in which we address: (1) Accurate sequencing of sperm at scale (2) Positive selection of spermatogenesis driver mutations across the exome (3) Offspring disease risks from male reproductive aging [1/15] medrxiv.org/content/10.110…

Important ongoing work curating G2P gene-disease relationships with mechanism and mode of inheritance, Helen Firth The DECIPHER Project EMBL-EBI. Numerous panels available to download. genomemedicine.biomedcentral.com/articles/10.11…

Penn Stanford University University of Oxford ASHG Trainee Research Excellence Post-Doctoral Winners also accepted their awards during #ASHG24! 🏆Rosemary Bamford (University of Exeter) 🏆Johanna Smith (Mayo Clinic) 🏆 Giovanni Quinones-Valdez (University of California) Congratulations everyone! 🎊

HUGE congratulations to @rbamford5 who received a ASHG Research Excellence Trainee award at #ASHG24 #ASHG2024. What an amazing achievement! University of Exeter University of Exeter Faculty of Health & Life Sci Exeter Neuroscience NIHR Exeter Biomedical Research Centre (BRC)

Super excited for the two superstars Emilie Wigdor and Qinqin Huang 🤩 Really interesting results - makes me question if we should be using something like the liability threshold model for monogenic disorders?

Excited to share our latest research, now published in nature 🎉 Huge thanks to my amazing supervisor Hilary Martin and co-first Emilie Wigdor for their incredible support!