CoraVacher

David Attenborough …99 in 2 days

ACMG last week was a blast, long-read to increase diagnostic yield ✔️, methylation for simoustaneous functional insights ✔️ and Dr Wendy Chung presentation showing 24% increase diagnostic yield on rare disease samples from 350+ families with #nanopore sequencing @nanoporetech.com

Webinar: Intuitive discovery and prioritisation of variants in rare diseases with EPI2ME and partners Learn more learn how EPI2ME simplifies genomic and epigenomic analysis of your rare disease samples, and how partners Geneyx and Fabric offer solutions for variant prioritisation to guide insights for...

We are hosting a Knowledge exchange on data analysis for rare diseases using EPI2ME and our data interpretation partners @geneyx.bsky.social and @fabricgenomics at the end of the month register: nanoporetech.com/about/events...

Longitudinal analysis of a dominantly inherited Alzheimer disease mutation carrier protected from dementia Nature Medicine - A rare case of asymptomatic dominantly inherited Alzheimer’s reveals confined tau pathology and unique proteomic features, highlighting potential resilience mechanisms...

even in well-characterised genes, long-associated with a disease subtype there is value in digging further to discover new variants and their function #alzheimers www.nature.com/articles/s41...

24kb locus with segmental duplication resolved www.researchsquare.com/article/rs-5...

Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are imprinting disorders caused by genetic or epigenetic aberrations of 15q11.2-q13. Their clinical testing is often multitiered; diagnostic test...

#nanopore sequencing to resolve different subtypes of PWS and AS jmg.bmj.com/content/earl...

Selected areas of Human rRNAs showing modification calls in IGV. Samples sequenced by ONT direct RNA sequencing with experimental Remora models calling m6A, m5C, PseudoU, and all 4 2'Ome modifications.

We have been busing working on models to detect all 2'Ome-RNA modified nucleotides on top of PseudoU, m6A, m5C and Inosine using @nanoporetech.com direct RNA sequencing.
This is still very preliminary but here are a few examples of what it looks like on Human #rRNA prepared with standard lib prep 🤩

We are proud to announce a collaboration with UK Biobank to create the world’s first large-scale #epigenetic dataset of 50k participants. The dataset will unlock crucial insights into how #epigenetics drives disease & the breakthroughs to treat them.

Read more: nanoporetech.com/news/oxford-...