Kate Thomson

Clinical scientist. Inherited heart conditions and genetics/genomics in healthcare.

[Kate Thomson @KLTJ]

📢Bioinformaticians!
💟Exciting opportunity to join the RDRUK Cardiovascular Initiative team (https://t.co/pEnN2P1lVx)
🧬Help us build a national inherited cardiac conditions variant database
👉Details here: https://t.co/ex0kIcnaqW
❗️Closes 4th June 2024

[The DECIPHER Project @deciphergenomic]

UTRannotator scores are displayed on annotation tabs for variants in 5’untranslated regions that create/disrupt upstream open reading frames @nickywhiffin @xiaolei_gene #noncoding

[🕊️Fran Bermúdez-Jiménez ن @FranBermudz]

Arrhythmogenic Cardiomyopathy Risk 🧬
#Genetics #HeartHealth #Research
New study introduces a tool to assess arrhythmic risk in DSP gene variant carriers @ehj_ed https://t.co/skv6METH35

[Nicky Whiffin @nickywhiffin]

I attempted to put this awesome work in @NatureGenet by @spence_jeffrey_, @tkyzeng, @Hakha_Most, and @jkpritch into context in my first ever News & Views piece https://t.co/CtVOA4w0Ie (free access: https://t.co/GKkizyrb9U) 🧬

[A/Prof Jodie Ingles @jodieingles27]

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 @amglazer @ChaiAnn_Ng

[Andrew Glazer @amglazer]

Excited to share our latest work validating an automated patch clamp assay for SCN5A, now out in @Circ_Gen! https://t.co/TBvTzS9Yj7 (1/4)

[Pradeep Natarajan @pnatarajanmd]

It is well-appreciated that polygenic risk scores show variable performance across ancestries. Our study led by @kparuchuri shows that a coronary artery disease PRS performs less well in females vs males. A sex-differential PRS helps narrow this gap. https://t.co/US3jFo0L4Z @JAHA_AHA

[A/Prof Jodie Ingles @jodieingles27]

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 https://t.co/fFBMkgqmxV

[A/Prof Jodie Ingles @jodieingles27]

WE ARE HIRING! A program manager to join our Genomics & Inherited Disease Program @GarvanInstitute, working with many awesome faculty labs @owensiggs @GenTechGp and our rare disease registryCould suit a GC, or someone interested in genomics/project mgnt https://t.co/U5BxIVL9nD

[BSGM @BritSocGenMed]

🍽️BSGM Lunch & Learn
📅Wed 22 May 12:30

🗣️first authors @MirandaDurkie & Emma-Jane cassidy present new ACGS guidelines for variant Classification in Rare Disease

https://t.co/yG3VoMMTB9…

Spaces are filling up!
Register now: https://t.co/kWOJKz9PnG
#Genetics #RareDisease

[🕊️Fran Bermúdez-Jiménez ن @FranBermudz]

😊Very happy to share with all of you our recent work published in @JACCJournals #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!

https://t.co/Iu0OyDBDik

[Kate Thomson @KLTJ]

@drjamesware Disappointing lack of emoji use in your pitch 🤔

[Kate Thomson @KLTJ]

@ChaiAnn_Ng @SWGLH @VictorChangInst Great talk Andy! Really looking forward to working with you!

[Kate Thomson @KLTJ]

@BR_CMR @RDMOxford @wellcometrust Congratulations!

[Nicky Whiffin @nickywhiffin]

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 @GenomicsEngland ???

I didn’t initially either, but here is the story of RNU4-2 🧵1/9

[Centre for Personalised Medicine, Oxford (+ bsky) @CPMOxford]

1/ What do you think about sequencing the entire genetic code (#genome) of babies at birth?

👶 🧬 🔍

A thread based on our @bmj_latest paper

https://t.co/eaoaFEMf7B

[Ian Berry @LaughingGenome]

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.

[Sarah Louise Stenton-Seeger @SL_Stenton]

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/ https://t.co/NnkeI9JWTQ

[Roddy Walsh 🇪🇺 🇺🇦 @roddywalsh]

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. https://t.co/oUzxcm6rXG #recessiveCMgenes

[Andrew Glazer @amglazer]

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.