Do you know ~60% of human SVs fall in ~1% of GRCh38? See our new preprint: arxiv.org/abs/2509.23057 and the companion blog post on how we started this project and longdust: lh3.github.io/2025/09/29/o.... Work with Alvin Qin

We are hiring a postdoctoral researcher to identify genes involved in frontotemporal dementia using short- and long-read sequencing data. More information is available at jobs.vib.be/j/124543/pos....

This is a big advance, folks. We've never had a disease-modifying drug for this devastating inherited disease www.science.org/content/arti... www.washingtonpost.com/health/2025/... www.economist.com/science-and-...

Hey all! Now that i've left my position at UQ, I thought I would leverage my network here to see if anyone has leads on environmental genomics, biotech, marine policy positions in the US/Canada/Australia/Europe. I'd love to speak with anyone in those fields re openings, worthwhile recruiters, etc.

I'm super excited to announce the new PureTarget kits from @pacbio.bsky.social are out! We have a new carrier screening panel and updated repeat expansion panels plus variant calling software to support both. Press release - www.pacb.com/press_releas...

Delighted to finally announce a preprint describing the Q100 project! “A complete diploid human genome benchmark for personalized genomics” For which we finished HG002 to near-perfect accuracy: www.biorxiv.org/content/10.1... 🧵[1/14]

What is the benefit of a T2T reference instead of GRCh38 for population-scale sequencing projects? Read all about it in our latest paper. Special thanks to Daniel Schmitz for leading this work, which involved reanalysis of 1000 samples! genome.cshlp.org/content/earl...

To "accelerate high-impact, curiosity-led research and innovation, and to facilitate breakthroughs" - let me tell you my students using genAI are NOT curious and what it is accelerated so far is lying, cheating and data fabrication

Excited to share our latest preprint: LongBench—a cross-platform reference dataset profiling cancer cell lines with bulk and single-cell approaches. www.biorxiv.org/content/10.1...

Our first PacBio Revio run with over 140Gb average HiFi yield! This was for a pool of 16 human WGS libraries across 8 SMRTcells, giving >20x coverage per sample. We're running these samples as part of the "Genome of Sweden" project 🧬🇸🇪

Today people went around my neighborhood in north east London spray painting St George’s crosses onto people’s homes. Many of these houses have non British people living in them. This is getting very dark, very quick.

Couldn’t be prouder of this collaboration on targeted long-read sequencing for pharmacogenomics! #PGx

New blog post – A quick look at Roche's SBX lh3.github.io/2025/09/11/a...

New preprint! With PureTarget we achieved >1000× coverage of targets with ~5kb PacBio reads at QV39. This enabled high-resolution analysis of CRISPR-Cas9 outcomes Key finding: Some CRISPR-mutations may only emerge in the second generation, due to germ cell mosaicism www.biorxiv.org/content/10.1...

Long-read single-cell genome, transcriptome and open chromatin profiling links genotype to phenotypes. https://www.biorxiv.org/content/10.1101/2025.09.08.674950v1

Don’t miss the @easigen-eu.bsky.social Advanced Course on Long-Read Sequencing & Medical Genomics! Discover cutting-edge long-read sequencing technologies and how they’re reshaping medical research and healthcare 📅2 October 📍@kuleuvenuniversity.bsky.social & online docs.google.com/forms/d/e/1F...

🚨 We're hiring a Bioinformatician (systems dev focus) at NGI in Uppsala! If you're skilled in bioinformatics & Python and desire to be part of a vibrant team to support cutting-edge genomics, apply now! 📅 Deadline: Sept 29, 2025 lnkd.in/d8fk5mYW lnkd.in/dHR5s6bv

🌊 In 2023, the ocean carbon sink weakened for the first time in a record-hot year 🌡️🌎 Our new study in Nature Climate Change quantifies this unexpected decline and explains how it came about. 👇 doi.org/10.1038/s415...

@scilifelab-ngi.bsky.social in collaboration with #Illumina are hosting a series of seminars on the topic of multiomics. Come and join us in Stockholm (Sept 22) or Uppsala (Sept 23). More information and links to sign-up: tinyurl.com/yc7xjce5

I'll be speaking in this webinar (go.roche.com/sbx-d) on September 10, where I'll share our benchmarks and observations for Roche's SBX sequencing instrument, as well as models developed by our team for SBX data.

There is an open post doc position for a computational biologist at the SciLifeLab National Genomics Infrastructure, Uppsala University. A great opportunity to work with us on the latest in long-read sequencing and other genome technologies! www.uu.se/en/about-uu/...

Morning Bluesky. Official recognition that a worst-case famine is happening in GAZA. The UN-backed monitor the Integrated Food Security Phase Classification Initiative says: air drops over Gaza will not avert the “humanitarian catastrophe” unfolding across the territory.

Pangenome-aware DeepVariant www.biorxiv.org/content/10.1... 🧬🖥️🧪 github.com/google/deepv...

Got a chance to take the @nanoporetech.com hyp(er accuracy) model for a spin. Pretty decent improvement in read quality 🚀 but expect to spend quite some more GPU hours 😉 (Reads were mapped with minimap2 and identity scores from nanoplot were used for phred score calculations)

Has anyone tried sequencing low integrity RNA (RIN<7) with long reads? I'm curious about what info could be obtained from such samples and whether ONT or PacBio would be the best option.. Or should we give up and just run short reads?

Roche has given more details of their SBX NGS technology: it'll be called Axelios, and we know it's aimed at competing against Illumina SBS technology, the technology the San Diego company acquired from Cambridge UK Solexa. I'll give you a second to catch up with it... Axelios vs Solexa....

Applications close soon for a #postdoc to work with Dr Wilfried Haerty as part of a European consortium integrating multi-omic resources for applications in cardiovascular medicine. buff.ly/mcCivAP #compbio #genomics

Buongiorno Milano! Ready for a great day 1 of #eshg2025? Packed program of excellent science 8.30am-8.00pm - plus networking event till 9.30pm to meet many friends, colleagues and collaborators! …andiamo @eshg.bsky.social @eshgyoung.bsky.social

The Genome of Europe website is online! Check it out here: genomeofeurope.eu. I'll be in Milan for #ESHG2025 and would be happy to discuss Sweden's plans for this project 🧬🧪

⁦Boston Children’s Hospital‬⁩ showing DNA from samples in a fridge can be successfully assessed for methylation at #nanoporeconf 🧪

www.uu.se/en/news/2025... Mycket välkommet från Uppsala universitet.

Postdoc opportunity! At National Genomics Infrastructure in Uppsala we're looking for a postdoc in genomics R&D. Cutting-edge methods dev in an excellent, international environment at the junction between academia and infrastructure. Deadline May 23! www.uu.se/en/about-uu/...

This is VERY big genetics & health news, Regeneron (Pharmaceutical company with v strong genetics in medicine arm) is going to buy 23andme. investor.regeneron.com/news-release...

Our latest PacBio Revio run really delivered! Over 140Gb HiFi yield for the first 4 SMRT cells, and a new internal record at 150.1 Gb🎉 These are ~10 year old human biobank DNA samples, automated library prep. We've seen some variability during the spring but let's hope we can keep this up

#BREAKING Israeli protesters walk towards the border between Israel and Gaza, calling to stop the genocide. Israeli police forces are trying to stop them

We proudly present UYSD: a new open-access repository with global Y-SNP haplogroup frequencies. A valuable resource for forensic genetics, genetic genealogy, population studies, and more. 👉 www.nature.com/articles/s41...

New preprint! My (now former) postdoc @kvastad.bsky.social led this integration of GWAS and spatial transcriptomics (ST) data to identify tissue structures with enrichment of disease-implicated genes = likely causal drivers of disease biology. www.biorxiv.org/content/10.1...

I'm really excited about the prospect of reusable Revio SMRT cells! Dave Miller shared internal R&D results at the #PacBioPRISM meeting in Athens. Apparently, this has potential to increase the yield of one SMRT cell to 280Gb (dual use) or even to 500Gb (four uses)

Amazing talk by @lilimilani.bsky.social at #PacBioPRISM in Athens! Here, summarizing a comparison of 3 long read technologies and then giving a sneak peak of 2000 PacBio genomes from the Estonian biobank

@longtrec.bsky.social cannot be better respresented at the @pacbio.bsky.social #PRISM2025 Athens meeting!! Great to catch up on the project and discuss future collaborations! @adameur.bsky.social @earlhaminst.bsky.social

My first first-author Post Doc paper together with Kateryna Makova just got published in the latest issue of Nucleic Acids Research: academic.oup.com/nar/article/... Press release by Sam Sholtis: science.psu.edu/news/Makova4... Artwork by Dani Zemba. Key Findings below!

Our Nature paper (rdcu.be/ei1NM) deep sequencing a 4-generation, 28-member family using multiple sequencing technologies to study transmission of all classes of genetic variation is out! @uwgenome.bsky.social @hhmi.org @pacbio.bsky.social @utah.edu

A project five years in the making, we've now published complete "T2T" genomes for six additional ape species! It turns out that finishing (and analyzing) six genomes is slightly more work than one... doi.org/10.1038/s415...

Our vision for Precision Omics Initiative Sweden (PROMISE) is now published in Nature Medicine! By boosting data-driven precision omics in Sweden, we can not only empower research but also integrate it with healthcare in a new way, with an impact in 🇸🇪 and 🌎. 🧵: rdcu.be/egmXY

Video obtained by @nytimes.com confirms the IDF fired on and killed clearly identified Red Crescent medics in Gaza. 15 were killed. Satellite pics analyzed by @ckoettl.bsky.social & @sanjanamv.bsky.social show the IDF then buried the medics andambulances. Story 👇 www.nytimes.com/2025/04/04/w...

I am so happy to see this manuscript finally out!!! We review and discuss all analysis steps in long reads transcriptomics. Hope the community finds this useful! Hugo thanks to @carolinamonzo.bsky.social and @tianyuanliu.bsky.social for the huge work!!! @longtrec.bsky.social @hitseq.bsky.social

Transcriptomics in the era of long-read sequencing go.nature.com/421ZTJm #Review by @carolinamonzo.bsky.social, Tianyuan Liu & @anaconesa.bsky.social @conesalab.bsky.social @i2sysbio.bsky.social

A new article from Laurel Hiatt and @hdashnow.bsky.social describing STRchive is now available at Genome Medicine. genomemedicine.biomedcentral.com/articles/10.... Check out the database resource, as STRchive "streamlines TR variant interpretation at disease-associated loci." strchive.org

Wonder what to do with all these 1000s of novel transcripts found by #long-reads sequencing? Adam Frankish, @carolinamonzo.bsky.social and myself discuss this in our @genomeresearch.bsky.social Perspective. @pacbio.bsky.social @nanoporetech.com @longtrec.bsky.social tinyurl.com/274zkdfz

Thrilled to see our Perspective on long-read transcriptomics Published in Advance in @genomeresearch.bsky.social, with #AdamFrankish and @carolinamonzo.bsky.social. We discuss the opportunities and challenges of LRS to uncover Transcript Divergence and for Genome Annotation. tinyurl.com/bdeteu4j