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@geneticbill.bsky.social

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European Society of Human Genetics @eshg.bsky.social · Jun 2

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

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geneticbill.bsky.social @geneticbill.bsky.social · Jun 12

Great talk by Jamie Ellingford about UPD as a cause of rare conditions in the 100k Genomes at the ACGS meeting in Birmingham

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geneticbill.bsky.social @geneticbill.bsky.social · Jun 7

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

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Reposted

European Society of Human Genetics @eshg.bsky.social · May 24

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!

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