Great to see the hard work of ClinGen’s WG on low penetrance and risk alleles out in this new publication!

The CureHeart project aims to develop #GeneticTherapies to treat #inherited #cardiomyopathies, British Heart Foundation The CureHeart Patient Perspectives Study wants to understand people's experiences of #cardiomyopathy, views on treatments, and issues accessing care. ow.ly/IxiA50QwJH3

I am pleased to share the Z-score for the largest #KCNH2 patch clamp dataset, which can be used as functional evidence within the ACMG variant classification framework. Hopefully this resource can help many individuals with #LQTS to get their #VUS reclassified. Happy to help.

Check out our preprint on a novel variant in the cardiac sodium channel SCN5A, which we identified in an infant with a severe “MEPPC” arrhythmia phenotype. The variant creates an extra pore in the channel (a “gating pore”), through an unusual mechanism.

Our latest recessive cardiomyopathy gene summary is for NRAP, potentially one of the most prevalent biallelic cardiomyopathy genes and which has been robustly associated with DCM for several years now. nature.com/articles/s4416… #recessiveCMgenes

We’re happy to share our preprint on evidence yield from genome sequencing for the calibrated PP3/BP4 computational recommendations, where we find a median of 1 rare missense variant reaching PP3 “Strong” evidence per person in disease-associated genes. 1/ medrxiv.org/content/10.110…

Please come to work for our fantastic rare disease team in the south west! Opportunities for an ambitious and experienced scientific leader to join our team delivering excellence in NGS/WGS diagnostic services, cardiac, renal and neurological disease.

1/ What do you think about sequencing the entire genetic code (#genome) of babies at birth? 👶 🧬 🔍 A thread based on our The BMJ paper bmj.com/content/384/bm…

Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in Genomics England ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9

😊Very happy to share with all of you our recent work published in JACC Journals #JACCEP Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy Has taken a lot of effort, but it's worth it. Thank you to all co-authors! jacc.org/doi/10.1016/j.…

🍽️BSGM Lunch & Learn 📅Wed 22 May 12:30 🗣️first authors @MirandaDurkie & 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

WE ARE HIRING! A program manager to join our Genomics & Inherited Disease Program Garvan Institute of Medical Research, working with many awesome faculty labs Owen Siggs Genomic Technologies Group and our rare disease registryCould suit a GC, or someone interested in genomics/project mgnt garvan.wd3.myworkdayjobs.com/en-US/garvan_i…

Do you have a PhD? Love going down the rabbit-hole on interesting research variants? Think CARDIAC is the most exciting of all genomics?👊 We are HIRING! Looking for a junior postdoc to work on Elusive Hearts, identfying new genes for monogenic 🫀 diseases seek.com.au/GARVAN-jobs?jo…

It is well-appreciated that polygenic risk scores show variable performance across ancestries. Our study led by Kaavya Paruchuri shows that a coronary artery disease PRS performs less well in females vs males. A sex-differential PRS helps narrow this gap. ahajournals.org/doi/10.1161/JA…

Excited to share our latest work validating an automated patch clamp assay for SCN5A, now out in Circulation: Genomic and Precision Medicine! ahajournals.org/doi/10.1161/CI… (1/4)

Love this figure. For all of you who have a love hate relationship with SCN5A variants… check out this functional assay which can help with classification Andrew Glazer Chai Ng

I attempted to put this awesome work in Nature Genetics by @spence_jeffrey_, Tony Zeng, Hakhamanesh Mostafavi, and Jonathan Pritchard into context in my first ever News & Views piece nature.com/articles/s4158… (free access: rdcu.be/dNOLE) 🧬

Arrhythmogenic Cardiomyopathy Risk 🧬 #Genetics #HeartHealth #Research New study introduces a tool to assess arrhythmic risk in DSP gene variant carriers EHJ Editor-in-Chief academic.oup.com/eurheartj/adva…

UTRannotator scores are displayed on annotation tabs for variants in 5’untranslated regions that create/disrupt upstream open reading frames Nicky Whiffin Xiaolei Zhang 张小蕾 #noncoding