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Latest publication from the Cancer Variant Interpretation group 👇

Much talk about livelihoods affected by Brexit, but lives are also at stake. Thanks to 20 patient groups and 52 clinicians/researchers, including colleagues from @UKCGG and BSGM for signing our letter in The Lancet today. cam.ac.uk/research/news/…

We are looking for a bioinformatics Data Manager. icr.tal.net/vx/appcentre-e… This is an excellent opportunity; please RT! Clare Turnbull- Prof/NHS Dr @Torr_Bethany @AliceceGarrett @CangeneCanvar The ICR #bioinformatics #genomics #cancer

Really enjoyed Alice Garrett's talk at #CGS2021: "The singleton missense variant found in a rare phenotype" "Even a novel rare missense variant in a known rare disease gene can offer a lot of evidence for pathogenicity". You just need to look at it in the right way!

📣 New publication from CanVIG-UK and Clare Turnbull- Prof/NHS Dr lab The ICR "Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes" Cankut Cubuk Alice Garrett nature.com/articles/s4143…

1) How common are #TP53 variants in women <30 with #BreastCancer? 2) Can you identify them from history & HER2 status? Results from London Regional Clinical Genetics services over a 5-year period ow.ly/dCQG50Fxr4B Alice Garrett Dr Sabrina @UKCGG @NorthThamesGLH

Our analysis of 44 in silico tools has been highlighted in the latest 'In This Issue' by Genetics in Medicine View it here: doi.org/10.1038/s41436… Science and Innovation at Cancer Research UK Clare Turnbull- Prof/NHS Dr Cankut Cubuk Alice Garrett Chey Loveday #Cancer #Genetics #CancerSuscpetibilityGenes

"QUANTIFYING EVIDENCE TOWARDS PATHOGENICITY FOR RARE PHENOTYPES: THE CASE OF SUCCINATE DEHYDROGENASE GENES SDHB AND SDHD" Our latest publication in Genetics in Medicine is now available online: authors.elsevier.com/sd/article/S10… Clare Turnbull- Prof/NHS Dr Alice Garrett Chey Loveday Science and Innovation at Cancer Research UK

Our paper on quantifying evidence towards variant pathogenicity for rare phenotypes is now published in Genetics in Medicine (doi.org/10.1016/j.gim.…)! The following thread summarises our main findings. (1/17)