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Mike Hubank

@generoom.bsky.social

Clinical Genomics in the UK. Scientific Director of Clinical Genomics at the Royal Marsden and North Thames GLH. Prof of Translational Genomics at ICR, London

235 Posts607 Follower472 Folgt
Simon Fisher@profsimonfisher.bsky.social · yesterday

Genome sequencing of >2k neurons from human postmortem 🧠, spanning fetal to postnatal life, finds ~1/4 of prenatal cells carry big somatic 🧬 changes across multiple chromosomes, with most such neurons being eliminated before birth. Fascinating new paper, relevant for neurodevelopmental disorders.🧪👇

Perinatal elimination of genetically aberrant human cortical neurons - Nature

Single-neuron sequencing shows that widespread genomic abnormalities are common prenatally but largely eliminated around birth, indicating developmental genome quality control in human neurons.

nature.com

James Fasham@jamesfasham.bsky.social · last wk.

Our 'Average' Genome paper is out! # of Variants across ancestries # of ClinVar Pathogenic variants # and size of CNVs # of de novo variants Polygenenic risk scores across ~1m genomes 🎤 See Caroline's presentation #ASHG26 📑 link.springer.com/article/10.1... to bookmark for future reference 📑

The average individual genome: a survey of nearly 1 million whole-genome sequences - Genome Medicine

Background As whole-genome sequencing (WGS) is increasingly used in clinical and public health contexts, clearer expectations regarding the amount of variation present in the “average” human genome ar...

link.springer.com

Caroline Wright@carolinefwright.bsky.social · last wk.

Excited to announce this new publication - everything you ever wanted to know about the "average" human genome - from @exeter.ac.uk @nihrexeterbrc.bsky.social. Variation is the norm; everyone has rare, deleterious, de novo, and pathogenic variants! link.springer.com/article/10.1...

Prof Sam Illingworth@samillingworth.com · 4w ago

🧬 A urine test catches bladder cancer early A Stanford team built a urine test that caught early bladder cancer 95% of the time, and stayed accurate on healthy urine 90% of the time, beating an older DNA-based test. 🔗 doi.org/10.1038/s41591-026-04673-3 #cancer #genetics #research #medicine 🧪

Urine cell-free RNA for bladder cancer detection and treatment response prediction - Nature Medicine

Applied to samples from more than 600 patients and controls, urinary cell-free RNA profiling with uRARE-seq demonstrated high sensitivity in detecting bladder cancer, and correlated with treatment res...

doi.org

Zornitza Stark@zornitza.bsky.social · last mo.

What have we learned from >10K newborns in gNBS studies? 🇺🇸🇧🇪🇦🇺 🧬extraction from Guthrie cards is feasible ✅ screen positive rate is 1.6-3.7% We now need: 📈Scalability ⚖️ Equity 💰Cost effectiveness 🤓 Policy frameworks and implementation models @genomeseb.bsky.social @heidicope.bsky.social

The American Journal of Human Genetics@ajhgnews.bsky.social · last mo.

🧬New from @zornitza.bsky.social & co! 📄 International experiences of genomic newborn screening: Lessons from over 10,800 newborns

Jonathan Coxhead@4130chromo.bsky.social · last mo.

Cheers, Genome Science UK and thank you Manchester! 🍺 Another fantastic meeting, brilliant sponsors, and excellent speakers. Above all one of the best meetings in the calendar for catching up with old genomics friends and as ever, making new ones. See you all next year 🧬

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Ewan Birney@ewanbirney.bsky.social · 2mo ago

Two weeks ago the @economist.com had a leader "In praise of designer-ish babies". I wrote a letter to the Editor about this, explaining why the UK system is so confident that this should remain unlawful. The Economist has kindly published a shortened form+ my full letter below lnkd.in/p/ef-n78N8

Full letter to Economist, response to "In praise of designer-ish babies" | Ewan Birney

Two weeks ago the The Economist published a leader titled "In praise of designer-ish babies". I wrote a letter to the editor in response to this. The Economist was kind enough to publish a shortened f...

lnkd.in

Maria Secrier@mariasecrier.bsky.social · 3mo ago

Interested in using AI, computational genomics and single-cell/spatial omics to tackle breast cancer dormancy and late recurrence? Join our team and work in collaboration with @magnanilab.bsky.social at ICR on an exciting interdisciplinary postdoc project: www.ucl.ac.uk/work-at-ucl/...

UCL – University College London

UCL is consistently ranked as one of the top ten universities in the world (QS World University Rankings 2010-2022) and is No.2 in the UK for research power (Research Excellence Framework 2021).

ucl.ac.uk

KaminskiMed@kaminskimed.bsky.social · 3mo ago

Finally!! The World Medical Association send letter to Israel's Prime Minister, about Dr. Abu Safiya demanding immediate access to independent medical care, evaluation for torture; due process or release; end to solitary confinement #SaveDrAbuSafiya www.wma.net/news-post/wm...

WMA - The World Medical Association-WMA renews urgent appeal to Israeli authorities over detained Gaza physicians, citing “grave concerns” for Dr Abu Safiya’s life

WMA - The World Medical Association

wma.net