📢New from alistair pagnamenta & colleagues
📰The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
#genomes100k
cell.com/ajhg/fulltext/…

Busiest day ever yesterday for the South West Genomic Laboratory Hub whole genome sequencing service. 33 cases due on one day, all went out on time. Our excellent WGS team smashing it as usual and providing a great service for our patients and users!

New event for bioinformaticians!

The webinar will discuss incorporating structural variation to increase the diagnostic yield in the 100,000 Genomes Project. Hosted by Cassandra Smith, Senior Bioinformatician at Genomics England 🧬

Register for free: ow.ly/pQs450RImUI

Aaron is an exceptional colleague to work alongside. This is a wonderful opportunity to do cutting edge genomics as part of a supportive team in a beautiful part of the world 🥰

🍽️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

#ESHG2024 is just over two weeks away 😁

#Genetics 🧬 #Berlin 🇩🇪

A date for your diaries! Rare chromosome and gene disorder awareness day is next month: Thursday 13th June.

What a fantastic story and an inspirational woman Sian Ellard

Listen to the amazing story of how Sian Ellard set up the Exeter molecular genetics lab from scratch and turned it into a world leading lab 1in6b.com/special-episod… Andrew Hattersley Exeter Med School Royal Devon NHS

My favourite ever explanations of next generation sequencing (NGS) is now available on YouTube 🧬
youtube.com/watch?v=x_Xs5N…

One to bookmark for teaching🔖
Many thanks Matthew Wakeling

#Genomics #Genetics #Bioinformatics

Great opportunities for clinical academic training in Exeter - recruiting now! oriel.nhs.uk/Web/PermaLink/… and oriel.nhs.uk/Web/PermaLink/… Caroline Wright Emma baple Exeter Med School

The countdown is on for this year’s Undiagnosed Children’s Day on Friday 26 April. Please share this post to help more families with undiagnosed children find SWAN UK (syndromes without a name) sooner #UCD2024

Nicky Whiffin Genomics England Amazing work Nicky Whiffin and all involved….I wonder how many we have in our ExeterGenomes cohort 🤔🤔🤔

We are getting amazing emails from people who have identified individuals with RNU4-2 variants ❤️

If this is you, and your families are interested in meeting others or being part of a community, then please direct them to Unique (@swynn_unique).

👇Recruiting for the #ESHG2024 social media committee

Reply / DM me

Fantastic Flow Design Practical Skills workshop from Royal Devon NHS Transformation for Exeter Genomics Lab 👏 Will be incorporating this learning across the services we offer for patients, building on our culture of #continualqualityimprovement ↗️ ExeterGenomes Exeter Clinical Laboratory South West Genomic Laboratory Hub

Come and join us in wonderful Devon. Lots of fantastic translational research opportunities with the Exeter Med School and NIHR Exeter Biomedical Research Centre (BRC) genomics teams including Caroline Wright, Mike Weedon, Jonathan Mill, Anna Murray, ExeterGenomes Joe Leslie and many others! Don't miss the deadline!

Richly deserved as someone said to be recently 'Zornitza is a rock star', very true!
ExeterGenomes