Hywel Williams
@GeneFiddler
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Senior Lecturer in Bioinformatics @cardiffuni I am fascinated about how genomic variation leads to disease & how we can use this knowledge to improve treatment
Cardiff/London
Joined September 2011
Finally got around to reading the "Ballistic Microscopy" paper, and it is really incredible. The paper opens with a compelling idea; one I hadn’t explicitly thought about before: “Light and electron microscopy utilizes interactions of either photons or electrons with matter to
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If you're doing any form of research related to rare diseases in Wales this is a must-join network. We need to work together to make us more than the sum of our parts, that way we can do real life-changing research and lead the way.
The Wales Rare Diseases Research Network connects patients, researchers, clinicians, policy makers and industry to transform rare disease research in Wales. @DuckersJamie Find out more the network and its future plans. https://t.co/Tfg8fwafwA
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This is a fascinating read about what's lurking in our genome. A message from the dark genome @TheCrick
crick.ac.uk
Long dismissed as genetic junk, the dark genome is stepping into the spotlight, revealing how ancient viralremnants and rogue DNA elements impact evolution and disease.
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This is a must go conference for anyone working in the #Raredisease field in Wales 🏴 Come & see the breadth of research being done here & find like-minded people to network with.
The Wales Rare Diseases Research Network is holding its first in-person meeting. When: 26 September 2025 Where: Swansea University Bay Campus Hear from @JamieDuckers, @SophiePearce and Alan Thomas (@AtaxiaAndMe). Register now. https://t.co/ZxGYxWHD7h
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25 years ago today, the first draft of the human genome was announced, a breakthrough that changed science forever 🧬 Read more about this achievement and the future of genomics over the next 25 years, here ⤵️ https://t.co/VisTKDKYCk
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TOP STORY🗞️ A clinical-stage spinout company is launching with a $140 million (£107 million) investment – the most significant commercial investment into Welsh research to date. @cardiffuni spinout Draig Therapeutics will launch with the investment from leading international
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Our book on ECT is out. People who had ECT or their relatives came together to share their journeys through severe depression and ECT. I was amazed by their stories. @DrAnnieHickox @ProfRobHoward @JunHongLi56447 @Joshua_RSmith @jonathanstea @JacquesSloman @DrT_Gergel
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Finally, we show that there is a significant enrichment (9.5x10-9) of these pathogenic variants in patients with neurodevelopmental disorders. The reasons for this are unclear but suggests for such patients this would be a good first approach. Pls read and RT 4/4
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It's important because pre-filtering genomic data to identify these variants is a rapid way to diagnose patients, leaving more time to analyse additional patients. If you don't have trio data don't worry, we show that 81% of variants in high CCRs are also pathogenic. 3/4
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Headline metric: We show that >91% of de novo variants in highly Constrained Coding Regions (CCR) are clinically diagnosed in #raredisease patients as pathogenic. This corresponds to around 9% of the cohort. Question: Why is that important? 2/4
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Really excited, exhausted and relieved to finally be able to share the results of my analysis of the @GenomicsEngland 100,000 Genomes Project dataset. Here's a link to free access to the manuscript: https://t.co/1XeO0Za7RQ see below 🧵for main outcomes 1/4
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A baby boy with a devastating genetic disease is thriving after becoming the first known person to receive a bespoke, CRISPR therapy-for-one, designed to correct his specific disease-causing mutation https://t.co/x6aOBZIXy3
nature.com
Nature - Treatment seems to have been effective, but it is not clear whether such bespoke therapies can be widely applied.
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Looking forward to my favourite #PublicEngagement event @pintofscience! I'll talk "how to train your virus" at @TinyRebelCdff on 20/05, discussing how we turned a disease causing "nasty" into a clinical stage anticancer medicine. Grab a pint, pop along! https://t.co/9g2LvD2YpS
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Postdoc position #1 is live. Please apply / spread the word! https://t.co/Z635G3bPCT
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New job opportunity 👇 Senior Technician working for @WalesGenePark as part of @cardiffuni An exciting #Genomics related position with a focus on developing @nanopore long-read sequencing technologies Pls RT 🙏 https://t.co/FyVpylYZ0F
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❤️🔥 Passionate about gene regulation research, wet/dry lab? 🎡 Excited about London's vibrant research and social scene? 🔬 Looking for a funded postdoc position (+ ideally, have the CV & drive to apply for a fellowship in your 1st year)? Please DM/email me to discuss!
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I seem to be able to remove the reads for the alt contigs but when I re-head the bam it all goes to 💩 and I go from >1B reads to ~600! Strangely the file is almost the same so it seems to be a problem with the header. If you have any ideas pls share and RT 🙏 2/2
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OK #bioinformatics folk, I am in dire need of help as after 3 weeks of trying I'm stumped. I have a bam file that was aligned to GRCh38 with alt contigs but I need to remove the alt contigs fromthe file and header. I've used #samtools and #Picard 1/2
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It’s an exciting time in the world of NGS, after years of dominance by Illumina could Roche be about to shake things up big time?
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Cardiff little peeps - come along and explore your brain
⏰There's still time to get your free tickets for this Saturday's 'Be a brain explorer' event below. Fun for all the family! 👨👧
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