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⏪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

🇦🇷🎨 enjoying the colourful sights of Buenos Aires before #ISER2024 kicks off 🧬👁️ new technologies for genetic diagnosis & discovery at 1pm tomorrow with a fantastic line up - come join us if you are in town

Three PhD projects currently available within or associated with my research team Evolution, Infection and Genomics (EIG) UoM Application deadlines in November. Info in the links, please reach out if of interest. 🧬🧠 shorturl.at/F5Zrx 🧬🧑‍🧑‍🧒 shorturl.at/S6plw 🧬 👁️ shorturl.at/jOiPh

🧬Genetic disorders - Mechanisms and Therapies 💉💊 🚨Join us as Lecturer/Senior Lecturer (Assistant/Associate Professor) in Genomic Medicine Evolution, Infection and Genomics (EIG) UoM The University of Manchester jobs.manchester.ac.uk/Job/JobDetail?… NIHR Manchester Biomedical Research Centre Manchester Rare Conditions Centre MFT Research and Innovation EpiGenRare - Rare Disease Research UK Rare Disease Research UK

👁️🧬Exciting collaboration with Carlo Rivolta and Susanne Roosing identifying genomic variation in small non-coding RNA impacting vision ++ Including variation in a different region of RNU4-2 - the non-coding gene shown last year to cause ReNU syndrome medrxiv.org/content/10.110…

Our latest preprint identifies common and rare genetic variants impacting gene expression in the human retina, identifying hundreds of new eGenes and examples of rare single nucleotide and structural variants driving drastic changes in expression medrxiv.org/content/10.110…

We are excited to share our new paper out today in Nature Genetics which explores de novo mutations in DNA secondary structure and identifies two novel #diseasegenes nature.com/articles/s4158…

New research using data from the National Genomic Research Library describes two new genetic disorders, leading to new diagnoses for families around the world. Find out more: genomicsengland.co.uk/news/national-…