Come to Manchester!! Such an exciting time with the launch of the Wellcome Discovery Research Platform for Cell-Matrix Biology- #matrix #reprogramming See more 👇 & contact us for more information-

🧬Short Tandem Repeat expansions are a cause of genomic disorders but are quite difficult to detect accurately ✍️Have a read in our latest blog about what they are, and how these genomic variations are detected and validated in our bioinformatics pipeline Genomics England

Applications open for a 4-year PhD w/ Fight for Sight 👁️Detect variants impacting gene expression in human eye 🧬Work with large human genomic datasets, including Genomics England 100,000 genomes project ✍️Spend some time w/ Nicky Whiffin in Oxford surl.li/rhidq

A link to the recommendations for clinical interpretation of variants found in non-coding regions of the genome is displayed in the sequence variant pathogenicity interface when a variant in a non-coding region is being evaluated Jamie Ellingford Nicky Whiffin #noncoding pic.x.com/1dkYycfbti

Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in Genomics England ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9

⏪Reanalysing historical arrayCGH data identifies new diagnoses⏪ Copy number losses overlap with disease genes that have been discovered since the time of first analysis George Burghel - جورج برغل Siddharth Banka Jake ⓥ Miller Jonathan Edgerley Chris Watt Ronnie Wright The North West Genomic Laboratory Hub pubmed.ncbi.nlm.nih.gov/38604752/

📢 🆕 Pipeline developed for clinical array comparative genomic hybridisation data allows reclassification of copy number losses (CNLs) & new patients' diagnoses ✴️ ➡️Efficiently reanalyse VUS CNLs at a large scale: bit.ly/3JMv96g 👥Siddharth Banka George Burghel - جورج برغل Jamie Ellingford

Very proud of Jacob flying the flag and sharing our work at #eshg2024 this year. If you missed it, then a preprint is on its way soon describing findings from 200+ paired genomes and transcriptomes from human retina 🧬👁️

So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in nature nature.com/articles/s4158… 🧵 1/16

Dr @J_Ellingford joins us shortly for an update on the Manchester Eye Tissue Repository Genome-Transcriptome Project and how genetic changes can lead to macular disease in some people. macularsociety.org/support/events…

📢🧠🧬building on important findings in 2024 showing non-coding genes can cause neuronal genetic disorders: pubmed.ncbi.nlm.nih.gov/38991538/ 👩‍🎓👨‍🎓fully funded PhD available to expand understanding of small RNA molecules in neuronal development & function Evolution, Infection and Genomics (EIG) UoM: shorturl.at/Xa1N0

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!

🔍🧬🛑 Exciting work by Alex Blakes to help understanding of how the location of nonsense variants impacts selective pressures - broad implications for discovery of genetic disorders and clinical variant interpretation