#ESHG2025 day 3

Prof Zornitza Stark presenting interesting data using Talos, an open source automated tool, in large scale genomic data reanalysis:

• 86% of known in scope diagnoses
• >250 new diagnoses from a cohort of 4,735 undiagnosed cases
• ~ 30% from new gene-disease relationships

#ESHG2025 Sequencing square

@jamesfasham.bsky.social @aleenamolbio.bsky.social (virtually) running a workshop on the use of Social Media in Science; asking the question:

"Has social media broken scientific knowledge sharing?"

Join to find out more!
#Socialmedia #Science #Genomics

#ESH2025

What a wonderful educational session by Dr Bart Van der Sanden (Radbound UMC) on long read sequencing:

Technical interpretation of variants from LRS data with case examples including different disease mechanisms.

I've learned something new today!

"Navigating variant interpretation in a sea of guidelines"

A wonderful educational session by Dr Julia Baptista on how to balance the evidence, context, and uncertainty in Genomics; using ACMG/ACGS general criteria as well as ClinGen and disease-specific criteria

#ESHG2025 #VariantInterpretation

#ESHG2025

Lovely talk from Dr. Susan Treves exploring how we identify and assess RYR1 variants, and use experimental tools to resolve variants of uncertain significance (VUS) in RYR1-related muscle disorders.

#Neuromuscular #Genetics #RYR1

#ESHG2025 Day 2

An inspiring workshop exploring the power of European Reference Networks (ERNs) in Rare Disease, from MDT discussions in ERNs,
ERDERA erdera.org & EU rare disease projects, to CPMS 2.0 cpms2.ern-net.eu/screen/public, registry updates and patient tutorials.

#Rarediseasenetworks

#ESHG2025 Day 2!

Unlocking the hidden genome in neurodegeneration

Dr Jensen sharing Stanford's data
Using long read sequencing and multi omics in 551 deeply phenotyped individuals with neurodegenerative disease to identify >200K structural variants (SVs), most invisible to short reads.
#LRS

#ESHG2025

Early insights from the Generation Study (Genomics England) - WGS for
100,000 babies!

As of May 2025:

10,300 babies recruited
4% had reportable variants

Key message:

'Variant classification in newborn screening is challenging, and manual review of data is key'

#NBS #WGS

Live from #ESHG2025

The role of long-read sequencing in transforming germline diagnostics (Radboud UMC 1,000 clinical samples study):

94.6% concordance with standard of care

4.5% additional diagnose mainly in recessive disease via haplotyping & novel variant detection

#LRS #RareDisease

Happening now #ESHG2025

"Genetic Sounds Podcast: The Diary of a Journal Editor: Voices, Values, and Vocabulary of Science"

Great episode showing what it really means to be journal editor in today's scientific landscape, and the evolving vocabulary used in patient communication

#ESHG2025

C04.06.
Interesting data from Aalborg University (Dr Peter Moller) applying context-dependant Polygenic Risk Score to assess sex-related disparities in stratification for Coronary Artery Disease.

Personalized genomics making healthcare more inclusive!

#ESHG2025

C04.01 Dr Gandin explores how rare, likely pathogenic variants in genes not traditionally associated with hypertrophic cardiomyopathy may still significantly elevate the risk for major cardiac events; using large-scale data from the UK Biobank.

Insightful talk!