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Exploring ~250,000 structural variants in GenomeSpy – just because we can! Ok, this is still work in progress and certain improvements are needed to make the visualization really useful. Stay tuned for updates! #biovis #bioinformatics #WebGL

🧬🎄Big update for GW (v0.9) brining loads of new features github.com/kcleal/gw/rele… 🔹 Desktop app with a new UI + more customisation 🔹 Even faster: 20 megabase regions rendered in ~1 sec 🔹 One-click BAM file access 👇 #Bioinformatics #Genomics

Epigenetic clocks informed by Mendelian randomisation, nice idea! nature.com/articles/s4358…

Here's a small package that integrates htslib with your Zig build, making it easier to work on genomics projects using #ZigLang. Check it out 👉 github.com/kcleal/zights #Genomics #Bioinformatics

Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation medrxiv.org/content/10.110…

Sharing an update to 'sortedintersect' - a python library for fast interval queries. Can be used for searching a point or intervals against a reference set and is around 25% faster than other tested libraries: github.com/kcleal/sortedi…

I’m very excited to share my PhD work on how age impacts tumor development and suppression. A huge thank you to Monte Winslow's Lab, Dmitri Petrov and all the co-authors for their support, wisdom, and patience (aging takes time!) over the past 5+ years. biorxiv.org/content/10.110… (1/n)

A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree biorxiv.org/cgi/content/sh… #biorxiv_genomic

🧬 Exciting new opportunities to join the AWMGS Bioinformatics team! We're looking for: 1️⃣ B6 Bioinformatician 2️⃣ B8A Lead Bioinformatician (Operational) Join us to help develop cutting-edge WGS, ctDNA and Somatic WGS pipelines and deliver new genomic tests for Wales.

🚨 Excited to share our latest paper in Cell identifying how under-replicated chromosomes in micronuclei become shattered by the Fanconi anemia pathway during mitosis. This work was led by UTSW Graduate School of Biomedical Sciences student Justin Engel. 🧵 (1/13): cell.com/cell/fulltext/…

Very pleased to share our new online pre-print! We explore the spatial-temporal evolution of extrachromosomal DNA (ecDNA) in human glioblastoma. biorxiv.org/content/10.110…. A 🧵

📊 Here is an up-to-date benchmark of structural variant callers, testing long-reads from #PacBio Vega and #ONT github.com/kcleal/SV_Benc…. Most callers have high precision, recall rates tend to be more variable 🧬 #genomics #bioinformatics

🧬🖥️ Just released Dysgu v1.8 which now supports phasing of structural variants when using long reads. Makes SV calling much more sensitive - see PacBio benchmark 👉 github.com/kcleal/SV_Benc… dysgu repo github.com/kcleal/dysgu #Bioinformatics

New job opportunity 👇 Senior Technician working for Wales Gene Park as part of Cardiff University An exciting #Genomics related position with a focus on developing Oxford Nanopore long-read sequencing technologies Pls RT 🙏 krb-sjobs.brassring.com/TGnewUI/Search…

This is a really important paper - immunogenic tumour associated antigens seem to be more associated with aberrantly expressed extragenic RNA than the classical mutations nature.com/articles/s4301…

🚨🚨Paper out! 🚨🚨 Delighted to share our work, now published in Nature Genetics 🧬! shorturl.at/94s5S We identified a targetable, chromothripsis-associated genetic event in blast phase (BP) MPN, a particularly poor prognostic subtype of acute leukaemia. 1/n 🧵👇