CoraVacher
@coravacher.bsky.social
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
March 24, 2025 at 5:06 PM
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
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
March 11, 2025 at 12:00 PM
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...
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
February 12, 2025 at 9:27 AM
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 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
February 6, 2025 at 1:18 PM
24kb locus with segmental duplication resolved www.researchsquare.com/article/rs-5...
#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
December 3, 2024 at 1:21 PM
#nanopore sequencing to resolve different subtypes of PWS and AS jmg.bmj.com/content/earl...
Reposted by CoraVacher
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 🤩
This is still very preliminary but here are a few examples of what it looks like on Human #rRNA prepared with standard lib prep 🤩
November 28, 2024 at 12:12 PM
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 🤩
This is still very preliminary but here are a few examples of what it looks like on Human #rRNA prepared with standard lib prep 🤩
Reposted by CoraVacher
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-...
Read more: nanoporetech.com/news/oxford-...
November 27, 2024 at 9:16 AM
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-...
Read more: nanoporetech.com/news/oxford-...