💡Finding non-coding disease causing variants is like finding needles in a haystack. Solution? Bring a magnet! Here we present BRAIN-MAGNET, an AI model trained on functional genomics that allows to interpret effects of SNVs in enhancers (1) #genetics #bioinformatics #raredisease

An absolute must-read for oncologists, clinical geneticists, public health community and beyond. BMJ-commissioned investigative report on NHS adoption of GRAIL=Galleri ctDNA population cancer screening, by Margaret McCartney and Deborah Cohen. Exceptional.

🚀 We recently launched two key resources for PPI in self-harm and suicide prevention research. Missed our launch event? Click below to watch the recordings and access the resources 👇 psrc-gm.nihr.ac.uk/2024/08/28/ppi… Leah Quinlivan NCISH NIHR Research UoM Biology, Medicine and Health Chris Frederick

Guidelines for surveillance in #BHD birt-hogg-dube syndrome nature.com/articles/s4143…

Excited to see this pub related to #RASopathies Natural History Study Update on #PediatricCancer Surveillance Recommendations for Patients with #Neurofibromatosis Type 1, #Noonan Syndrome, #CBL Syndrome, #Costello Syndrome, and Related RASopathies aacrjournals.org/clincancerres/…

🔬 Curious about #mitochondria #imaging but unsure where to begin? Our review might help! Now on early publication Annual Reviews🚀📜 doi.org/10.1146/annure… Kleele lab Suliana Manley 🔬🗜🧫 Willi L Stepp #Quantitative #Microscopy #SuperResolution #CellBiology

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Excellent work showing the importance of comprehensive genetic testing in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis #NF2 #schwannomatosis #genetictesting #variantinterpretation #NWGLH #UoM The North West Genomic Laboratory Hub pubmed.ncbi.nlm.nih.gov/39209702/

Welcomed into #Autumn 🍂 🌺 The University of Manchester UoM Biology, Medicine and Health

Another thoughtful piece from Anneke Lucassen and Rachel Horton on newborn genome sequencing in European Journal of Human Genetics nature.com/articles/s4143…

Our new breast cancer germline gene meta-analysis just published in Annals of Oncology compares and combines UKBiobank, BRIDGES and CARRIERS datasets: in total 101,397 unselected ‘population-type’ female breast cancer cases and 312,944 controls. Association and variant frequency

🚨 New today! 📰Implementation of a dyadic nomenclature for monogenic diseases 🧑‍🤝‍🧑ClinGen omim.org cell.com/ajhg/abstract/…

Fantastic paper reporting population-based meta-analysis of germline breast cancer susceptibility genes in >100k women with BC 📊🔬 Interestingly, contribution of ‘syndromic’ gene PVs was relatively low; intriguingly, NF1 PVs occurred 1 in 1,470 (2-3x higher than #NF1 prevalence)

🚨Job alert ‼️ Join our research team jobs.manchester.ac.uk/Job/JobDetail?… #ResearchTechnician #RareDisease #StemCells #KabukiSyndrome #ChromatinDisorders Manchester Rare Conditions Centre EpiGenRare - Rare Disease Research UK Evolution, Infection and Genomics (EIG) UoM UoM Biology, Medicine and Health Sara Cuvertino Adam Jackson

Fresh off the press: The new ACGS Constitution Karyotype Best Practice Guidelines are out! Find them here: acgs.uk.com/media/12611/ac…

NTAP was proud to support a publication from one of our #FrancisSCollinsScholars, Dr. Taylor Sundby, MD 🧬, in AACR’s Clinical Cancer Research journal. The article details a cfDNA fragmentomic approach to distinguish between forms of PNST in #NF1. Read more: bit.ly/4gc6FSU #neurofibromatosis

Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy #RareDisease #Genetics #morbidgene medrxiv.org/content/10.110…

Wonderful exhibition 🖼️ UoM Biology, Medicine and Health The University of Manchester presenting the lived experiences and invisible impact of hearing loss, tinnitus, and dizziness. Powerful ✍️ drawings Diana Terry #SeeingSounds & 🎧 audio by DominicGately: thenoisebegins.com

Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach. Well done ⁦Carolina Jaramillo Oquendo⁩ new paper for lab. transcriptome finds mutations not found by DNA first pass ⁦Jenny Lord⁩ ⁦⁦Htoo Aung Wai⁩ link.springer.com/article/10.118…

Where do non-invasive colorectal cancer tools ‘FIT’ alongside colonoscopy in the surveillance of high-risk patients? - Gastroenterology gastrojournal.org/article/S0016-…