Super excited that we just loaded our first ever sample on LNGs new PromethION 🤩🚀🧬 @nanopore

RT @em_maragkakis: Excited to share our work with.Mark Cookson and @senergystic labs. We combine #SingleCell and #Nanopore sequencing to pr….

RT @PaulaSaffieA: Chile spotted! SCA 4 not only in Sweden, also in the south of the world in admixed population, with @ONT and @KimberleyBi….

RT @davidrliu: In @NatureGenet we report that base editing of trinucleotide repeats (TNRs) reduces somatic repeat expansions in Huntington’….

RT @PaulaSaffieA: Come and see our work at the #secretcinema @NanoporeConf @nanopore

RT @sedlazeck: Come join us at our 7th #bioinformatics #hackathon @BCM_HGSC @BCMFromtheLabs around Structural Variants, Graph genomes & m….

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!.

RT @sedlazeck: Long reads @nanopore @PacBio can provide insights into epigenetics. We (@fuyilei96 @timp0) summarize the latest #Bioinformat….

RT @PaulaSaffieA: Collaboration made the impossible possible: we identified the first SCA4 individuals outside Northern Europe—right here i….

RT @proukakis: Delighted to comment on the paper explaining the role of a new GBA variant in Parkinson's risk in Africa in Nature Structura….

RT @ScienceofPD: Researchers using @nanopore long-read sequencing effectively identify pathogenic structural variants in the PRKN locus tha….

Excitingly, lots more data to be released in 2025, and we’re eager to expand this framework to include disease cohorts next! 🎉✨ @cornelisblauw @mike_nalls @SingletonNeuro #LongReadSequencing #Neurogenomics #DiversityInGenomics #OpenScience.

12/ Finally, this study is part of the CARD long-read sequencing initiative, which aims to sequence thousands of Alzheimer’s Disease and Related Dementias samples from diverse populations to uncover the genetic and epigenetic drivers of these diseases on a global scale.🌍.

11/ 📢 Check out the preprint here: We’d love to hear your feedback, ideas, and collaboration opportunities. 🚀.

10/ 🔬 Open Science! All NAPU outputs (SVs, SNVs, assemblies, mapped BAMs, etc.) will be shared on AnVIL! 🚀The data is currently being uploaded, and we’ll keep you posted when it’s live🔑Note: You’ll need prior dbGaP access to datasets phs001300 and phs000979 to access the data.

9/ This resource lays the groundwork for future studies, enabling:.- Investigations into neurodegenerative disease mechanisms (e.g., ADRD).- Insights into ancestry-specific genetic variation.Understanding how SVs shape gene expression and DNA methylation.

8/🧩 Why is this important?.Our findings emphasize the important role of SVs in brain biology. By including ancestrally diverse samples, we’ve built a foundation for inclusive research into how gene regulation impacts neurological diseases. 🌍🧠.

7/ More highlights:.- 34,087,867 small variants 🧬.- Methylation profiles at 28+ million CpG sites 🔬.- This provides a unique opportunity to study the genetic and epigenetic landscape of the brain at an unparalleled resolution.

6/ We also uncovered haplotype-specific DNA methylation at millions of CpG sites, identifying cis-acting SVs with significant regulatory impacts. LRS highlights complex regulatory mechanisms that SRS can't resolve. 🌌.

5/ By integrating matched gene expression data, we performed QTL analyses, showing how SVs impact gene expression in the frontal cortex🧠 Over 50% of these top nominated causal SVs were missed by SRS, including a key deletion at the NLRP2 locus linked to neuroinflammation. 🔑🔥.

4/ What we found:.- ~250k SVs 🧩.- Locally phased assemblies covering 95% of protein-coding genes in GRCh38 🧬.- Many of these SVs are missed by short-read sequencing (SRS).