🍽️BSGM Lunch & Learn 📅Wed 22 May 12:30 🗣️first authors Miranda Durkie 💙🧬 & Emma-Jane cassidy present new ACGS guidelines for variant Classification in Rare Disease acgs.uk.com/media/12533/uk… Spaces are filling up! Register now: my.bsgm.org.uk #Genetics #RareDisease

Amazing results from a large national collaboration #100KGP

Highly needed recommendations for TMB assay validation and reporting 🧬 #cancergenomics sciencedirect.com/science/articl…

ESMO recommendations for the use of NGS for patients with advanced cancer which includes the use of tumour NGS to detect tumour-agnostic alterations in patients with metastatic cancers where access to matched therapies is available 🧬 #cancer #genomics annalsofoncology.org/article/S0923-…

Updated genetic and epidemiological study of Schwannomatosis & NF2 related Schwannomatosis 👇🏼 #NF2 #genomics #schwannomatosis The North West Genomic Laboratory Hub jmg.bmj.com/content/early/…

🆕 Updated prevalence of NF2-related schwannomatosis ▶️ Much higher rate of de novo NF2 than previously reported ▶️ Study strength: Data from a centrally held NF2 UK database, where molecular and clinical data are updated regularly ▶️ bit.ly/4bxi0d1 👥 George Burghel - جورج برغل

Huge congratulations to our Clinical Director Bill Newman Prof Bill Newman on this prestigious award. #genetics #genomics #GenomicMedicine #RareDisease #Pharmacogenomics #Pharmacogenetics #ClinicalGenetics

New ASCO guidelines on selection of Germline Genetic Testing Panels in Patients With Cancer #cancer #genomics #genetics #cancergenetics #DNA #guidelines pubmed.ncbi.nlm.nih.gov/38759122/

Germline testing for breast cancer patients in England: illogical to prioritise grade 1 breast cancer aged 30-39 over grade 3 aged 40-49 years? ⬇️ The North West Genomic Laboratory Hub Emma Woodward jmg.bmj.com/content/early/… #cancer #cancergenetics #breastcancer #genomics

Our latest study published in GIM showing the importance of BRIP1 pathogenic variants in Ovarian cancer with thoughts on Lynch screening ⬇️ #cancergenetics #cancergenomics #genomics #BRIP1 #ovariancancer #cancer The North West Genomic Laboratory Hub Emma Woodward Niki Flaum gimjournal.org/article/S1098-…

⚠️Breast Cancer patients in England: bit.ly/3yr9dvA ▶️ Pathogenic BRCA1/2 variants are less likely in women under 40 w/ grade 1 breast cancer than in those aged 40-49 w/ grade 3 cancer ▶️ Prioritize PV likelihood over age criteria 👥George Burghel - جورج برغل Emma Woodward

Long-awaited variant classification recommendations from the ClinGen ENIGMA BRCA1/2 VCEP #BRCA1 #BRCA2 #cancer #HBOC #genetics #genomics #variantinterpretation #ACMG Fantastic holiday read 🧬 cell.com/ajhg/abstract/…

As part of GREGoR Consortium , we are excited to announce new guidance to encourage clinical labs to report novel candidate genes during clinical testing. We give criteria for triaging, sharing, and reporting novel genes through various methods. authors.elsevier.com/c/1jcDA3vlFV4E…

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/

Excellent work by Charlie Rowlands and team at ICR and CanVIG - if you do variant classification, then this tool is a must #PS4 #casecontrolanalysis #variantclassification #CanVIG #cancer #cancergenetics Clare Turnbull- Prof/NHS Dr Miranda Durkie 💙🧬 Alice Garrett pubmed.ncbi.nlm.nih.gov/39227160/

Classifying genomic variants? Have case control data for PS4? Try our new tool, the PS4-Likelihood Ratio Calculator (turnbull-lab.shinyapps.io/ps4_lrcalc/). jmg.bmj.com/content/early/… Allows user to define the odds ratio (representing anticipated underlying strength of disease association

HRD testing at The North West Genomic Laboratory Hub using shallow WGS SeqOne ⬇️ #HRD #cancer #ovariancancer #genomics #WGS #BRCA

🆕 Interested in classifying genomic variants? Check the recently developed PS4-likelihood ratio calculator (PS4-LRCalc)! ▶️ Applicable across both highly penetrant variants such as in ultra-rare Mendelian disease, as well as less penetrant effects from larger case series ▶️ A

Colin Lindsay presenting a future perspective on non-KRAS G12C mutations in NSCLC at #ESMO24. A top down (clinical) and bottom up (preclinical/translation) approach required for breakthroughs. Exciting time for pan ras / pan KRAS inhibitors Colin Lindsay MCRRASLab Manchester Cancer Research Centre

🆕 Genetic findings in people with with at least one non-vestibular schwannoma, but who did not meet clinical diagnostic criteria for NF2-related SWN at the time of genetic testing ▶️ Check the variant detection rates for the 3 major SWN genes (NF2, LZTR1 and SMARCB1):