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Hywel Williams @genefiddler.bsky.social · 27/05/2025

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. If you have questions DM me. 4/4

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Hywel Williams @genefiddler.bsky.social · 27/05/2025

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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Hywel Williams @genefiddler.bsky.social · 27/05/2025

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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Hywel Williams @genefiddler.bsky.social · 27/05/2025

Really excited, exhausted and relieved to finally be able to share the results from an analysis of the @GenomicsEngland 100,000 Genomes Project dataset. Here's a link to free access to the manuscript: authors.elsevier.com/a/1l8iU3vlFV... see below 🧵for main outcomes

authors.elsevier.com

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Reposted by Hywel Williams

Cardiff University Libraries @cardiffunilib.bsky.social · 12/05/2025

The ASSL is 50 🎈... thread! Built on the site of former railway engine sheds, the ambitious structure was built over two years, at a cost of £1.1 million (the equivalent of £12.5 million today).

The ASSL exterior in 1975 before opening. Clean lines!

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Hywel Williams @genefiddler.bsky.social · 20/03/2025

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 🙏 krb-sjobs.brassring.com/TGnewUI/Sear...

krb-sjobs.brassring.com

Senior Technician - Cardiff University - Job Details

Job Details: Senior TechnicianDivision of Cancer & GeneticsSchool of MedicineCollege of Biomedical and Life SciencesA S

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Hywel Williams @genefiddler.bsky.social · 05/03/2025

It's patient data so unfortunately can't share the file, it's also very big. However, the header looks like this 👇and I need to remove the alt contigs, there's 1000s of them. That bit seems to work using samtools, it's then updating the head I'm struggling with.

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Hywel Williams @genefiddler.bsky.social · 05/03/2025

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 bam file is almost the same size 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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Hywel Williams @genefiddler.bsky.social · 05/03/2025

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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Hywel Williams @genefiddler.bsky.social · 29/01/2025

Looking forward to attending the Festival of Genomics today. Are they on here? #FOG2025

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Reposted by Hywel Williams

Jeroen Pasterkamp @jeroenpasterkamp.bsky.social · 27/01/2025

Check out our updated lab website: www.jeroenpasterkamplab.com. Great team studying developing and diseased neural circuits!

jeroenpasterkamplab.com

Pasterkamp Lab – Neural Circuit Development and Disease

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Hywel Williams @genefiddler.bsky.social · 19/12/2024

pdf corrupted, can you please send a new link?

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Hywel Williams @genefiddler.bsky.social · 09/12/2024

Great news Kim, keep up the good work!

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Hywel Williams @genefiddler.bsky.social · 09/12/2024

This is an interesting article that has benchmarked the use of @nanoporetech.com for clinical diagnostics in New Zealand. Lots of people (including us) are looking to do the same so a timely publication. Also, great to see my old colleague @polona.bsky.social on the author list 🙌 rdcu.be/d2UoA

nature.com

Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand - npj Genomic Medicine

npj Genomic Medicine - Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand

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Hywel Williams @genefiddler.bsky.social · 06/12/2024

Very informative overview of the clinical #Genomics landscape in Cymru in this week's FoG's newsletter. Great to see Wales Gene Park, All Wales Genomics Service, Genomic Partnership Wales and our SWAN clinic highlighted. Diolch FoG Team 👏 World of Genomics: Wales From frontlinegenomics.com

frontlinegenomics.com

Homepage - Front Line Genomics

Our mission is to deliver the benefits of genomics to patients faster. We achieve this through website content, articles, reports and events.

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Hywel Williams @genefiddler.bsky.social · 29/11/2024

Hi @j9austin.bsky.social because of your reccommendation I've decided to try out BlueSky and you're my very first post!

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