See our new paper in @ajhgnews.bsky.social :
Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientists
Explores blocks to implementing MAVE data into clinical variant interpretation ‪@varianteffect.bsky.social‬
authors.elsevier.com/a/1lDFkgeXDyy6

Very honoured. Our paper was voted seventh in the annual top ten for the @bjgp.bsky.social. Working in clinical cancer genetics, we wanted to provide information for women with a family history of breast cancer regarding additional BC risk presented by taking HRT (who are often warned off).

On the fifth anniversary of Brexit,

2016: We'd be better off with Brexit
2016: The sun has risen on an independent UK
2023: Brexit has failed
2023: We were more competitive in the EU
2024: Our democracy feels dead

End this economic self harm, rejoin the EU

YouTube video by Implausibleblog Emily Thornberry wonders if the EU wants the UK back, obviously they do

2025: Emily Thornberry wonders whether the EU wants the UK to rejoin the EU, suggesting they don't

2023: "UK should rejoin EU to ‘fix’ Brexit, says Ursula von der Leyen"

If you're only YouTube, give this a like and subscribe

youtu.be/kNGDpw2rJQc

NEWS 📰 : Lynch Syndrome affects 175,000 people in England but only 5% know they have it. ICR's Professor Clare Turnbull (@clare-turnbull.bsky.social) explains the importance of routine genetic testing to prevent cancer cases.

Read more ⤵️

Never forget how much responsibility Merrick Garland has for Donald Trump’s second presidency and total evasion of legal accountability.

Using cancer phenotype sex-specificity to enable unbiased penetrance estimation of SMARCA4 pathogenic variants for small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is an extremely rare, highly aggressive cancer (mean age of onset, 24 years). Nearly al…

We used cancer phenotype sex-specificity to enable more unbiased penetrance estimation of SMARCA4 PVs for SCCOHT tumours in the UKBiobank cohort and observed a 62% deficit of SMARCA4 PVs in females compared to males.
Just published in @GIMJournal
@UKCGG