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geneticbill.bsky.social
@geneticbill.bsky.social
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eshg.bsky.social
New research investigates de novo variants in R-loop forming regions across large-scale genomic datasets identifying RNU2-2 and RNU5B-1 as novel #NDDs genes. Together with RNU4-2, these explain a high number of previously unsolved NDDs cases.
#snRNAs

www.nature.com/articles/s41...
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes - Nature Genetics
Genomic analyses focused on regions that form R-loops identify rare mutations in RNU2-2 and RNU5B-1 in individuals with neurodevelopmental disorders.
www.nature.com
June 2, 2025 at 11:46 AM
geneticbill.bsky.social
Great talk by Jamie Ellingford about UPD as a cause of rare conditions in the 100k Genomes at the ACGS meeting in Birmingham
June 12, 2025 at 9:38 AM
geneticbill.bsky.social
Great work published today as preprint on 44k exonerated from the Genes and Health study

www.medrxiv.org/content/10.1...
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity
Genes and Health (G&H) is a biomedical study of adult British-Pakistani and -Bangladeshi research volunteers enriched for autozygosity. We performed whole exome sequencing in 44,028 G&H participants, ...
www.medrxiv.org
June 7, 2025 at 10:16 AM
Reposted
eshg.bsky.social
Welcome to the ESHG 2025 – #hybridconference! Join the conversation by using #eshg2025. With this hashtag you will also find the latest updates. See you at 8:30 CEST for the first sessions of today!
May 24, 2025 at 6:15 AM