While I was taking a holiday last week, 2 super exciting preprints dropped, adding to another posted 6 days prior.
These papers describe a remarkable role for *recessive* variants in *RNU2-2* causing developmental and epileptic encephalopathy
🧵 by the amazing @christeldepienne.bsky.social 👇
1/3
08.09.2025 08:42 — 👍 23 🔁 10 💬 2 📌 1
Doctoral Training | Department of Public Health and Primary Care (PHPC)
Course Code – MDPU22 A doctorate from the University of Cambridge is primarily a research degree based on a research programme developed in conjunction with a supervisor.
Sept is approaching & I can already hear initial chats/enquiries for potential PhD studies happening!
If you're interested in a PhD, check out our department @cam.ac.uk www.phpc.cam.ac.uk/education-an...
We've a super interdisciplinary faculty spanning primary care, data science, epidemiology etc
27.08.2025 12:35 — 👍 10 🔁 7 💬 1 📌 0
🚨 New preprint led by amazing duo @rociorius.bsky.social and @alexblakes.bsky.social in collaboration with @cassimons.bsky.social, @dgmacarthur.bsky.social and many other amazing folks! ❤️
We describe the clinical phenotype of a recessive NDD associated with biallelic variants in RNU4-2 🧬
See 🧵👇
18.08.2025 11:46 — 👍 26 🔁 8 💬 0 📌 0
🚨 Our parent-of-origin study is out in Nature! 🧬
Maternal and paternal alleles can have distinct — even opposite — effects on human traits, revealing a hidden layer of genetic architecture that standard GWAS miss.
🔗 www.nature.com/articles/s41...
Highlights below!
06.08.2025 18:27 — 👍 117 🔁 55 💬 2 📌 5
Green Algorithms
Towards environmentally sustainable computational science
IMHO green computing & green software engineering are becoming even very important.
Check out our Green Algorithms Initiative for more tools and information www.green-algorithms.org
And the GREENER Principles which lay the foundation for a sustainability roadmap www.nature.com/articles/s43...
04.08.2025 15:44 — 👍 6 🔁 4 💬 0 📌 0
Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair - Scientific Data
Scientific Data - Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair
Our paper about extensive genomic data for a new broadly-consented pancreatic cancer cell line and matched normal tissue is now published at doi.org/10.1038/s415...! Stay tuned for draft GIAB benchmarks for somatic variants, and assemblies from these data coming soon! 1/2
21.07.2025 15:19 — 👍 3 🔁 1 💬 1 📌 0
Oeddech chi’n gwybod bod gennym ni gylchlythyr misol sy’n cynnwys y #newyddion diweddaraf ym maes #arloesi, yn ogystal â blogiau a digwyddiadau ar draws yr ecosystem #iechyd a #GofalCymdeithasol yng Nghymru a’r tu hwnt?
Tanysgrifiwch i Hwb Heddiw: lshubwales.com/cy/our-newsl...
08.07.2025 07:51 — 👍 1 🔁 1 💬 0 📌 0
Did you know we have a monthly #newsletter which features the latest #innovation news, blogs and events across the #health and #SocialCare ecosystem in #Wales and beyond?
Subscribe to Hub Highlights today: lshubwales.com/our-newsletter
08.07.2025 07:52 — 👍 1 🔁 1 💬 0 📌 0
BiocPy brings Bioconductor's data structures and analysis tools to Python github.com/BiocPy #Rstats
Workshop materials: biocpy.github.io/BiocWorkshop...
Book: biocpy.github.io/tutorial/
04.07.2025 15:30 — 👍 10 🔁 2 💬 0 📌 0
GitHub - kcleal/gw: Genome browser and variant annotation
Genome browser and variant annotation. Contribute to kcleal/gw development by creating an account on GitHub.
🚨 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 Python interface for GW
github.com/kcleal/gwplot
📝 nature.com/articles/s4159…
#Genomics #Bioinformatics
26.06.2025 14:47 — 👍 37 🔁 17 💬 2 📌 0
It's time!!!
An entire session of #eshg2025 on snRNA genes ❤️🤓
25.05.2025 08:32 — 👍 49 🔁 10 💬 2 📌 1
Join our new Wales Applied Virology Unit as a Lecturer in Infectious Disease Epidemiology / Behavioural Science!
See the advert here:
krb-sjobs.brassring.com/TGnewUI/Search…
And contact WAVU co-director David Gillespie for informal enquiries.
#NewPI #Lecturer #GroupLeader #Job #Opportunity
16.04.2025 06:23 — 👍 3 🔁 4 💬 1 📌 0
Great to be visiting @nanoporetech.com as part of a cns Nanopore symposium meeting with pathologists and clinical scientists to discuss the application of nanopore sequencing in the clinic.
05.03.2025 10:51 — 👍 19 🔁 4 💬 0 📌 0
🧬🖥️ 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_Be... dysgu repo github.com/kcleal/dysgu...
26.02.2025 11:37 — 👍 8 🔁 4 💬 0 📌 0
Index of /ReferenceSamples/giab/data_somatic/HG008/Liss_lab/analysis/NIST_HG008-T_somatic-stvar_DraftBenchmark_V0.1-20241219
Our first curated draft somatic structural variant benchmark for the new GIAB PDAC tumor cell line HG008-T is at ftp-trace.ncbi.nlm.nih.gov/ReferenceSam..., based on extensive short+long read sequencing data described in doi.org/10.1101/2024.... Feedback to improve future versions is very welcome!
20.12.2024 18:04 — 👍 15 🔁 8 💬 0 📌 0
GitHub - kcleal/SV_Benchmark_CMRG_GIAB: Structural variant benchmark of challenging medically relevant genes
Structural variant benchmark of challenging medically relevant genes - kcleal/SV_Benchmark_CMRG_GIAB
🧬🖥️ Sharing an update to my SV benchmark repo. More callers have been added for the CMRG/GIAB benchmarks. github.com/kcleal/SV_Be.... Also now uses #Nextflow and tests the newest #PacBio Vega data, along with #ONT kit14. Results are on the GitHub page 👉
29.11.2024 13:40 — 👍 11 🔁 2 💬 2 📌 0
This is worth looking at. Trying some genomes we have assembled with earlier versions of hifiasm, hifiasm plus herro and then this new version of hifiasm. The early assembly results suggest that now hifiasm alone is equivalent to what we got with herro but with less compute!
28.11.2024 12:58 — 👍 21 🔁 5 💬 0 📌 0
I know many of you have been awaiting us launching transcript expression data in gnomAD. We were waiting for the GTEx v10 release which is now out so we are finally able to launch this. Enjoy!!
22.11.2024 14:44 — 👍 53 🔁 20 💬 1 📌 1
Structural Variant detection and comparison
2-4 December 2024 To foster international participation, this course will be held online
Interested in Structural Variants?
Join for this 3-day course with @sedlazeck.bsky.social
and Luis Paulin in December (2-4): physalia-courses.org/courses-work...
We’ll cover tools and workflows for SVs using @illumina
@oxfordnanopore.bsky.social and @pacbio.bsky.social data!
22.11.2024 15:11 — 👍 7 🔁 5 💬 0 📌 0
The official journal of the European Society of Human Genetics, providing insights into human genetics, genomics, molecular, clinical, and cytogenetics research
We are an MRC & BBSRC funded UK Human Functional Genomics Initiative - creating global impact through open science
https://ukfunctionalgenomics.com
Epidemiologist, PhD, @uniofexeter.bsky.social
interested in human health, ageing and haemochromatosis.
https://experts.exeter.ac.uk/24971-janice-atkins
https://sites.exeter.ac.uk/ironoverload/
Cancer Researcher @monashSTM working on B cell tumour immunology, tertiary lymphoid structures, and protein microarrays
Postdoctoral Bioinformaticial in the Computational Rare Disease Genomics group (Nicky Whiffin). univ. Oxford 🧬💻
Loves Evolution, regulation, cheese and cats. She/Her
Working to deliver the benefits of these therapies to improve health, wellbeing and prosperity of the people of Wales
Our mission is to enable the promise of genomics to better human health by creating the world’s most advanced sequencing technologies.
Head of Bioinformatics at Broken String Biosciences.
https://www.brokenstringbio.com/
Still love microbial bioinformatics. Now working in the cell and gene therapy space. Keen Python and Nextflow coder
Bluesky shadowbanned me
Follow my alt account
Current yeast articles everyday :)
Follow our Feed #yeast #saccharomyces
:)
From Molecular Genetics Lab, USACh
Ysbrydoli arloesedd iechyd, gofal a lles. Dilynwch ni i gael y newyddion diweddaraf am wyddorau bywyd ac arloesedd iechyd
Inspiring health, care and wellbeing innovation. Follow us for the latest in life sciences and health innovation.
Genseq provides ISO 15189 accredited clinical genetic testing services to healthcare professionals and a comprehensive range of genomic solutions to the biopharma and clinical research sectors worldwide.
Follow us for #genetics educational insights!
We are Cancer Research UK's #innovation arm. We strengthen #academia & #industry collaboration, bridging the gap between research and the market.
Clinical PhD Fellow/Specialist Registrar in Medical Oncology at Cancer Research UK National Biomarker Centre/University of Manchester. Interests in melanoma, liquid biopsy (and Gloucester Rugby...)
The Netherlands Cancer Institute (NKI): at the international forefront of cancer research and treatment for over 100 years.
We are a world-leading cancer research institute dedicated to improving patient lives through discovery science.
Core funded by Cancer Research UK, part of the University of Cambridge.
www.cruk.cam.ac.uk
Cancer centre uniting over 1200 experts to tackle cancer from every angle.
A partnership between Cancer Research UK, the University of Cambridge and Cambridge University Hospitals NHS Foundation Trust.
crukcambridgecentre.org.uk
Cancer Research UK Scotland Institute (formerly the CRUK Beatson Institute). Our Mission: Cancer discovery for patient benefit.
www.crukscotlandinstitute.ac.uk
We're a partnership between The University of Manchester, Cancer Research UK and The Christie NHS Foundation Trust.
Est: 2006
Director: Professor Rob Bristow
🖥️ https://www.mcrc.manchester.ac.uk/
