Congratulations to you and the whole team on this really beautiful work. This is a really important discovery for patients and families affected by rare conditions.
The biology here is fascinating too. Really nice to see the clustering of compound het / homozygous variants in the Sm site in your cohort for example.
*A new pre-print on increasing gene expression!* 🧬📈
doi.org/10.64898/202...
I absolutely love this figure in a second paper led by Adam Jackson, @alexblakes.bsky.social, and Sid Banka (www.medrxiv.org/content/10.1...) of RNU gene diagnoses in @genomicsengland.bsky.social 100k genomes project.
(1) showing just how many new diagnoses are found across these genes ❤️
2/3
Our new study defines a distinct #neurogenetic condition arising from recurrent structural variants at 16p13.3 palindrome.
Individuals show progressive ataxia, cognitive decline, and a characteristic MRI pattern with caudate & cerebellar atrophy.
#Genomics #RareDisease 🧵1/3
New paper on everyone’s favourite topic, QC!
We show why you should do genotype-level QC on your WGS data
www.biorxiv.org/content/10.1...
Very real quotes about this paper -
“The most exciting, mind-blowing paper of the year!”
“On a par with Fisher 1918”
“I read it every night. Just so beautiful”
