Hywel Williams
@genefiddler.bsky.social
Senior Lecturer in Bioinformatics @cardiffuni
I am fascinated about how genomic variation leads to disease & how we can use this knowledge to improve treatment.
I am fascinated about how genomic variation leads to disease & how we can use this knowledge to improve treatment.
This is an interesting read about what's lurking in the shadows of our genome.
www.crick.ac.uk/news/2025-10...
www.crick.ac.uk/news/2025-10...
A message from the dark genome
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.
www.crick.ac.uk
October 3, 2025 at 2:46 PM
This is an interesting read about what's lurking in the shadows of our genome.
www.crick.ac.uk/news/2025-10...
www.crick.ac.uk/news/2025-10...
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
Here's a link to free access to the manuscript:
authors.elsevier.com/a/1l8iU3vlFV...
see below 🧵for main outcomes
authors.elsevier.com
May 27, 2025 at 3:10 PM
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
Here's a link to free access to the manuscript:
authors.elsevier.com/a/1l8iU3vlFV...
see below 🧵for main outcomes
Reposted by Hywel Williams
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).
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).
May 12, 2025 at 10:46 AM
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).
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).
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...
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...
Senior Technician - Cardiff University - Job Details
Job Details: Senior TechnicianDivision of Cancer & GeneticsSchool of MedicineCollege of Biomedical and Life SciencesA S
krb-sjobs.brassring.com
March 20, 2025 at 1:21 PM
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...
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...
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
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
March 5, 2025 at 5:24 PM
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
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
January 29, 2025 at 9:32 AM
Reposted by Hywel Williams
Check out our updated lab website: www.jeroenpasterkamplab.com. Great team studying developing and diseased neural circuits!
Pasterkamp Lab – Neural Circuit Development and Disease
www.jeroenpasterkamplab.com
January 27, 2025 at 7:20 PM
Check out our updated lab website: www.jeroenpasterkamplab.com. Great team studying developing and diseased neural circuits!
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
Also, great to see my old colleague @polona.bsky.social on the author list 🙌
rdcu.be/d2UoA
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
www.nature.com
December 9, 2024 at 9:53 AM
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
Also, great to see my old colleague @polona.bsky.social on the author list 🙌
rdcu.be/d2UoA
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
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
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.
frontlinegenomics.com
December 6, 2024 at 10:36 AM
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
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
Hi @j9austin.bsky.social because of your reccommendation I've decided to try out BlueSky and you're my very first post!
November 29, 2024 at 5:14 PM
Hi @j9austin.bsky.social because of your reccommendation I've decided to try out BlueSky and you're my very first post!