@KLTJ

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

 Oxford, UK.
Joined February 2010
  • Tweets1.7K
  • Following810
  • Followers442
5Media
📢Bioinformaticians! 💟Exciting opportunity to join the RDRUK Cardiovascular Initiative team (bit.ly/44ye4a1) 🧬Help us build a national inherited cardiac conditions variant database 👉Details here: bit.ly/3ygY0xi ❗️Closes 4th June 2024
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UTRannotator scores are displayed on annotation tabs for variants in 5’untranslated regions that create/disrupt upstream open reading frames @nickywhiffin @xiaolei_gene #noncoding
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Arrhythmogenic Cardiomyopathy Risk 🧬 #Genetics #HeartHealth #Research New study introduces a tool to assess arrhythmic risk in DSP gene variant carriers @ehj_ed academic.oup.com/eurheartj/a…

A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers

AbstractBackground and Aims. Pathogenic desmoplakin (DSP) gene variants are associated with the development of a distinct form of arrhythmogenic cardiomyop

academic.oup.com
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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 nature.com/articles/s41588-0… (free access: rdcu.be/dNOLE) 🧬
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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
@amglazer4 Jul 2024
Replying to @amglazer
The assay did a near-perfect job of distinguishing benign from pathogenic variants. Applying ClinGen guidelines, we can implement the assay at up to a strong level in the ACMG classification scheme. (3/4)
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Kate Thomson retweeted
Andrew Glazer
@amglazer4 Jul 2024
Excited to share our latest work validating an automated patch clamp assay for SCN5A, now out in @Circ_Gen! ahajournals.org/doi/10.1161/… (1/4)
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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. ahajournals.org/doi/10.1161/… @JAHA_AHA
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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?jobI…
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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 garvan.wd3.myworkdayjobs.com…
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Kate Thomson retweeted
BSGM@BritSocGenMed17 May 2024
🍽️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 – at South West, England
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😊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! jacc.org/doi/10.1016/j.jacep…
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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
Yuyang Chen@quenchentin8 Apr 2024
Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.1101/… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic...

Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes[1][1]. Increasingly, large genome-sequenced...

medrxiv.org
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1/ What do you think about sequencing the entire genetic code (#genome) of babies at birth? 👶 🧬 🔍 A thread based on our @bmj_latest paper bmj.com/content/384/bmj-2023…

Challenges of using whole genome sequencing in population newborn screening

Rachel Horton and colleagues argue that making sense of genomic variation in newborn babies is difficult, so the UK Generation Study will analyse only a tiny proportion of the genome. Why then is it...

bmj.com
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Kate Thomson retweeted
Ian Berry@LaughingGenome9 Mar 2024
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.
South West Genomic Laboratory Hub@SWGLH8 Mar 2024
Bristol Genetics Lab are recruiting to a Principal Clinical Scientist in Rare Disease (AfC 8b, permanent). Please see NHS jobs to apply, or @LaughingGenome for more information. 👉Job Advert (jobs.nhs.uk) 📅 Closes on 3rd April
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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/10.1101/…

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

Purpose To investigate the number of rare missense variants observed in human genome sequences by ACMG/AMP PP3/BP4 evidence strength, following the calibrated PP3/BP4 computational recommendations....

medrxiv.org
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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/s44161-0… #recessiveCMgenes
Summary of the evidence and clinical/demographic characteristics for the association of biallelic loss-of-function variants in NRAPwith dilated cardiomyopathy.

ALT Summary of the evidence and clinical/demographic characteristics for the association of biallelic loss-of-function variants in NRAPwith dilated cardiomyopathy.

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Kate Thomson retweeted
Andrew Glazer
@amglazer20 Feb 2024
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.
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Kate Thomson retweeted
Chai Ng@ChaiAnn_Ng8 Feb 2024
I am pleased to share the Z-score for the largest #KCNH2 patch clamp dataset, which can be used as functional evidence within the @TheACMG variant classification framework. Hopefully this resource can help many individuals with #LQTS to get their #VUS reclassified. Happy to help.
Plotted using the data in Table S3 from doi.org/10.1101/2024.02.01.24301443 (Prognostic Value of Multiplexed Assays of Variant Effect and Automated Patch-clamping for KCNH2-LQTS Risk Stratification). Blue region indicates normal function based on current density measurement. The Z-score threshold was established previously in Thomson et al HGG Adv 2024 (doi.org/10.1016/j.xhgg.2024.100270)

ALT Plotted using the data in Table S3 from doi.org/10.1101/2024.02.01.24301443 (Prognostic Value of Multiplexed Assays of Variant Effect and Automated Patch-clamping for KCNH2-LQTS Risk Stratification). Blue region indicates normal function based on current density measurement. The Z-score threshold was established previously in Thomson et al HGG Adv 2024 (doi.org/10.1016/j.xhgg.2024.100270)

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The CureHeart project aims to develop #GeneticTherapies to treat #inherited #cardiomyopathies, @TheBHF The CureHeart Patient Perspectives Study wants to understand people's experiences of #cardiomyopathy, views on treatments, and issues accessing care. ow.ly/IxiA50QwJH3
Two medical researchers stand in a lab in front of shelved of medical looking equipment and bottles. To the left on a red background, white text tells us about the Cure Heart project funded by the British Heart Foundation.

ALT Two medical researchers stand in a lab in front of shelved of medical looking equipment and bottles. To the left on a red background, white text tells us about the Cure Heart project funded by the British Heart Foundation.

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Kate Thomson retweeted
Heidi Rehm@HeidiRehm18 Jan 2024
Great to see the hard work of ClinGen’s WG on low penetrance and risk alleles out in this new publication!
ClinGen@ClinGenResource17 Jan 2024
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group - Genetics in Medicine gimjournal.org/article/S1098…
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