kez cleal

🚨 Our GW paper is out in Nature Methods!🥲 GW is a fast genomics browser (up to 100x faster!): github.com/kcleal/gw Also, just released a nifty Python interface for GW: github.com/kcleal/gwplot 📝 nature.com/articles/s4159… #Genomics #Bioinformatics

New job opportunity 👇 Senior Technician working for @WalesGenePark as part of @cardiffuni An exciting #Genomics related position with a focus on developing @nanopore long-read sequencing technologies Pls RT 🙏 krb-sjobs.brassring.com/TGnewUI/Search…

Today in @CellCellPress we report the use of prime editing to correct several mutations that cause alternating hemiplegia of childhood (AHC), a rare and devastating neurodevelopmental disorder, in patient-derived cells and in two mouse models. drive.google.com/file/d/1ibC50t… 1/10

🚨 Hot off the press!!! Wanted to share this to celebrate the momentous achievement from the @GiuntaLab and for the human centromere / genomics communities as a whole... more posts to come next week but for now, happy Fourth & happy reading ❤️🧬💻 science.org/doi/10.1126/sc…

🚨🚨Paper out! 🚨🚨 Delighted to share our work, now published in @NatureGenet 🧬! 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 🧵👇

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…

🧬🖥️ 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

📊 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

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 🧵

🚨 Excited to share our latest paper in @CellCellPress identifying how under-replicated chromosomes in micronuclei become shattered by the Fanconi anemia pathway during mitosis. This work was led by @UTSWGradSchool student @JustinEngel17. 🧵 (1/13): cell.com/cell/fulltext/…

🧬 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.

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

I’m very excited to share my PhD work on how age impacts tumor development and suppression. A huge thank you to @LabWinslow, @PetrovADmitri 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)

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…

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

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