Author | Lightnews

CoraVacher @coravacher.bsky.social · May 6

David Attenborough …99 in 2 days

CoraVacher @coravacher.bsky.social · Mar 24

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

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CoraVacher @coravacher.bsky.social · Mar 11

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...

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...

nanoporetech.com

CoraVacher @coravacher.bsky.social · Feb 12

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...

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...

www.nature.com

CoraVacher @coravacher.bsky.social · Feb 6

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

Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti

Incontinentia pigmenti (IP) is caused by loss-of-function variants in IKBKG, with molecular genetic diagnosis complicated by a pseudogene. We describe seven individuals from three families with IP but...

www.researchsquare.com

CoraVacher @coravacher.bsky.social · Dec 3

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

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...

jmg.bmj.com

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Reposted by CoraVacher

Adrien Leger @adrienleger.bsky.social · Nov 28

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 🤩

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.

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Reposted by CoraVacher

Oxford Nanopore @nanoporetech.com · Nov 27

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-...

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