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Mega-DDD diagnostics preprint! Iterative variant detection, annotation, filtering and interpretation, plus analysis of factors affecting chance of being diagnosed. Big thank you to clinicians, scientists and thousands of families - it's been a privilege. medrxiv.org/content/10.110…

One more paper out this week - it's been a busy few months Exeter Med School! Review of incomplete penetrance and variable expressivity, frontiersin.org/articles/10.33…

New paper out in Genetics in Medicine with Robin Beaumont Exeter Med School: bigger genes & bigger panels = more benign variants prioritised for diagnostic evaluation. Every ~100 genes adds a rare nonsynonymous variant in around 1 in 5 people in UK Biobank! sciencedirect.com/science/articl…

براي گريهاي بي وقفه! #مهسا_امینی

The NHS will be able to diagnose & potentially save the lives of thousands of ill children & babies, within days rather than weeks, thanks to a partnership between healthcare professionals & academics in Exeter University of Exeter Royal Devon NHS #Genomics exeter.ac.uk/news/research/…

medRxiv Our study of >2000 women with very early menopause shows that most cases must be polygenic and monogenic causes are rare John Perry Stasa Stankovic Saleh Shekari University of Exeter Faculty of Health & Life Sci MRC IEU

The Women of Iran are TIME's 2022 Heroes of the Year #TIMEPOY ti.me/3P9hloq

I’m a Black scientist, tired of facing racism and exclusion from academia science.org/content/articl…

'Weak and pleiotropy robust sex-stratified Mendelian randomization in the one sample and two sample settings' 🧵 Our work is published at Genetic Epidemiology IGES shorturl.at/dnovC 1/

Inspiring talk from Prof Anna Murray The Festival of Genomics & Biodata this afternoon explicating de novo discoveries of genomic variations associated with female reproductive ageing. Not surprising at all to see an overcapacity conference room. University of Exeter #FoG2023 #festivalofgenomics #WomensHealth

“Life can pull you down, but running always lifts you up!” #manbestfriend #phdlife

Excited to share the 3rd publication from my PhD "Mendelian randomisation study of body composition and depression in people of East Asian ancestry highlights potential setting-specific causality" published in BMC Medicine! (1/16) Exeter Med School NIHR Exeter Biomedical Research Centre (BRC) bmcmedicine.biomedcentral.com/articles/10.11…

Just arrived in Cape Town! Looking forward to have an incredible week with inspiring genomics talks! #ICHG2023 #Africa #Genomics

Currently at the 14th International Congress of Human Genetics Gala Dinner in GreenPoint, Cape Town, we’re exploring African cuisine, music and cultures! #ICHG2023 #Genetics #Africa

Great to meet old and new colleagues at the QUEX symposium University of Exeter. Looking forward to hearing lots of exciting talks! QUEX PhD Uni of Exeter Doctoral College

Totally agree! It's been a huge privilege over the last two days, to meet and hear about the amazing and diverse research conducted by our talented QUEX PhD students. Safe travels back to Brisbane UQ News colleagues! #QUEXsymposium2023 MONIKA WALIA Saleh Shekari UQ Health

Had a great workout this morning Quayside Exeter. Exeter is much more beautiful when sun☀️ is out! Thanks to Exeter City Council! #phdlife University of Exeter

Also – interested in doing a PhD on aetiology of menopausal symptoms using genomic data? NIHR Exeter Biomedical Research Centre (BRC) funded PhD with Kate Ruth, Anna Murray and Julia Prague and working with the MRC grant team. See exeter.ac.uk/study/funding/… . APPLY SOON – CLOSES 2 JAN 2024

🏃‍♂️ Running 26.2 miles this January for Prostate Cancer UK with my trusty sidekick Ace! 🐾 As a geneticist, I've seen the impact of research. Let's beat prostate cancer together. Support our run and donate here:runthemonthme.prostatecanceruk.org/fundraising/sa… #prostatecanceruk #ResearchForACure

New research has found 4 genes with some of the largest known effects on timing of #menopause, providing new insight into links between menopause timing and #cancer risk. news.exeter.ac.uk/faculty-of-hea…