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.

This is an interesting read about what's lurking in the shadows of our genome.

www.crick.ac.uk/news/2025-10...

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

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

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

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

The ASSL exterior in 1975 before opening. Clean lines!

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).

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...

I've written a more detailed description of my problem and some examples of the files/scripts I've been using on SEQanswers: www.seqanswers.com/forum/genera...

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.

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

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

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

#FOG2025

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

pdf corrupted, can you please send a new link?

Great news Kim, keep up the good work!

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

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

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

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