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Researchers using Oxford Nanopore long-read sequencing effectively identify pathogenic structural variants in the PRKN locus that were missed by conventional methods; They propose that it should be considered for unresolved early onset #Parkinsons cases onlinelibrary.wiley.com/doi/10.1002/an…

Delighted to comment on the paper explaining the role of a new GBA variant in Parkinson's risk in Africa in Nature Structural and Molecular Biology by Pilar Alvarez Jerez nature.com/articles/s4159…

Collaboration made the impossible possible: we identified the first SCA4 individuals outside Northern Europe—right here in #Chile through Oxford Nanopore Speaking a common scientific language Kimberley Billingsley breaks barriers for underserved patients! #RareDisease #Genetics

Long reads Oxford Nanopore PacBio can provide insights into epigenetics. We (Yilei Fu Winston Timp) summarize the latest #Bioinformatics approaches to analyze methylation & why this matters! Out now Nature Reviews Genetics bit.ly/4cjxUtl BCM HGSC BCM Department of Molecular and Human Genetics Rice Computer Science Johns Hopkins University

Excited & very lucky to be part of the Gates Sr. AD Fellowship ✨ Using CARD’s long-read epigenetic data 🧬 to build better predictive models of ADRD & making all models & methods openly available (open science FTW!🔓). Looking forward to collaborating with this awesome group!

Come join us at our 7th #bioinformatics #hackathon BCM HGSC From the Labs at Baylor College of Medicine around Structural Variants, Graph genomes & many related topics: fritzsedlazeck.github.io/blog/2025/hack… Groups will work on interesting topics that will be published in F1000. Registration closes 10th of Aug!

Come and see our work at the #secretcinema Oxford Nanopore Events Oxford Nanopore

In Nature Genetics we report that base editing of trinucleotide repeats (TNRs) reduces somatic repeat expansions in Huntington’s disease (HD) and Friedreich’s ataxia (FRDA)—in patient-derived cells and in vivo—a collaboration with the Mouro Pinto lab. drive.google.com/file/d/1on7kdy… 1/14

Chile spotted! SCA 4 not only in Sweden, also in the south of the world in admixed population, with ONT-Bob Hope Airport and Kimberley Billingsley #CARD team. Check it out “Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients” …mentdisorders.onlinelibrary.wiley.com/doi/10.1002/md…

Excited to share our work with Mark Cookson and Payel Sen labs. We combine #SingleCell and #Nanopore sequencing to profile #RNA isoforms from young to geriatric mouse brains. We uncover #aging changes in transcription, processing, and splicing that also impact coding potential