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Adam Ameur

@adameur.bsky.social

290 followers 130 following 30 posts

Genomics R&D, long-read sequencing and bioinformatics - with focus on human/medical applications. Associate professor at the SciLifeLab National Genomics Infrastructure (NGI) Sweden and Uppsala University

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Adam Ameur @adameur.bsky.social · Dec 5

The Genome of Europe project has started!🎉 For the next 3.5 years I’ll be involved in GoE activities in Sweden, including a new effort on long-read sequencing🧬🧪 Exciting times ahead!! @scilifelab.se @scilifelab-ngi.bsky.social www.scilifelab.se/news/sweden-...

Sweden and SciLifeLab Contribute to the Genome of Europe

The most extensive EU-funded program on population genomics to date, “Genome of Europe” (GoE), has officially launched. The project will deliver a resourceful database for research and future clinical...

www.scilifelab.se

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Reposted by Adam Ameur

FinnGen @finngen.bsky.social · 20h

Just in time for #ASHG2025, a new FinnGen public data release is live!
This release features the first clinical laboratory value association results. Analyses cover 383 lab measurements (OMOPIDs) with data from ≥1,000 participants each.
Access the results here: www.finngen.fi/en/access_re...

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Keith Robison @omicsomics.bsky.social · 21h

PacBio: $300 Genome Via Chemistry Update 🧬🖥️

omicsomics.blogspot.com/2025/10/pacb...

PacBio: $300 Genome Via Chemistry Update

ASHG is here in Boston, just down the street from Ginkgo's HQ. I'm in a new role in Ginkgo Automation, trying to convince the NGS world tha...

omicsomics.blogspot.com

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Adam Ameur @adameur.bsky.social · 1d

New preprint for sequencing enthusiasts!🧬💻 We benchmarked Element Biosciences’ AVITI against Illumina NovaSeq, with validation using PacBio Revio. All platforms are available at NGI Sweden!

Great work led by Pontus Höijer and Robert Månsson.

www.biorxiv.org/content/10.1...

Whole genome sequencing with AVITI and NovaSeq X Plus reveals comparable performance with contextual biases

Element Biosciences' avidity sequencing has emerged as a competing technology to Illumina's short read sequencing platform. Prior benchmarks of avidity sequencing have not included the latest Illumina...

www.biorxiv.org

Reposted by Adam Ameur

Adam Phillippy @aphillippy.bsky.social · 4d

Last week we were in the Washington Post for our characterization of Robertsonian chromosomes. This week we are entering our 10th day of being shut down and all of our research is on hold. To help me feel not-so-bad, here is a thread of some studies we released right before the shutdown 🧵 [1/n]...

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Ewan Birney @ewanbirney.bsky.social · 5d

Some thoughts on the blossoming of genomic medicine stimulated by the excellent @ga4gh.org meeting in lovely Uppsala Sweden. www.linkedin.com/pulse/though...

Thoughts from Uppsala - Genomic Medicine blossoming

I have had a wonderful three days in Uppsala Sweden, at the Global Alliance for Genomics and Health plenary hosted locally by the generous SciLifeLab . It was a meeting of course focused on the standa...

www.linkedin.com

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Matthew Neville @mattneville.bsky.social · 6d

Now published! Our paper on:
(1) Accurate sequencing of sperm at scale
(2) Positive selection of spermatogenesis driver mutations across the exome
(3) Offspring disease risks from male reproductive aging
[1/n]
www.nature.com/articles/s41...

Sperm sequencing reveals extensive positive selection in the male germline - Nature

A combination of whole-genome NanoSeq with deep whole-exome and targeted NanoSeq is used to accurately characterize mutation rates and genes under positive selection in sperm cells.

www.nature.com

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Tuuli Lappalainen @tuuliel.bsky.social · 6d

We're hiring! My team at @nygenome.org is looking for a statistical genetics postdoc to decipher functional architecture of complex diseases from cutting-edge CRISPR+scRNA-seq data, with @nevillesanjana.bsky.social lab. Happy to meet at #ASHG25, apply here
jobs.silkroad.com/NYGenome/Car...

Postdoctoral Research Associate, Lappalainen & Sanjana Labs - 101 Avenue of the Americas, 7th Floor, New York, New York - New York Genome Center

Find a career with New York Genome Center

jobs.silkroad.com

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Heng Li @lh3lh3.bsky.social · 15d

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

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Wouter De Coster @wdecoster.bsky.social · 19d

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....

Postdoctoral researcher - VIB

The Laboratory of Advanced and Translational Neurogenomics at the VIB-Center for Molecular Neurology, led by Dr. Rosa Rademakers, is seeking a highly motivated and talented postdoctoral researcher to ...

jobs.vib.be

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Eric Topol @erictopol.bsky.social · 19d

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-...

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Steven Robbins @stevenjrobbins.bsky.social · 19d

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.

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Sarah Doom @sarahdoom.bsky.social · 22d

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...

This link will take you to a page that’s not on LinkedIn

lnkd.in

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Reposted by Adam Ameur

Adam Phillippy @aphillippy.bsky.social · 22d

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]

A complete diploid human genome benchmark for personalized genomics

Human genome resequencing typically involves mapping reads to a reference genome to call variants; however, this approach suffers from both technical and reference biases, leaving many duplicated and ...

www.biorxiv.org

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Adam Ameur @adameur.bsky.social · 22d

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...

T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population

An international, peer-reviewed genome sciences journal featuring outstanding original research that offers novel insights into the biology of all organisms

genome.cshlp.org

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Dr Juliette @ferrydanini.bsky.social · 25d

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

University of Oxford @ox.ac.uk · 25d

NEW: Oxford will be the first UK university to give all staff and students free ChatGPT Edu access, from this academic year.

ChatGPT Edu is built for education, with enhanced privacy and security.

Graphic from the University of Oxford, featuring an image of a glowing, digital brain with the text: 'Generative AI at Oxford'. Highlights that ChatGPT Edu is now available to all staff and students. Includes a link for more information: ox.ac.uk/gen-ai

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Yupei You @youyupei.bsky.social · Sep 15

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...

Benchmarking long-read RNA-sequencing technologies with LongBench: a cross-platform reference dataset profiling cancer cell lines with bulk and single-cell approaches

Long-read RNA sequencing enables full-length transcript profiling and improved isoform resolution, but variable platforms and evolving chemistries demand careful benchmarking for reliable application....

www.biorxiv.org

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Adam Ameur @adameur.bsky.social · 29d

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 🧬🇸🇪

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Peter Geoghegan @petergeoghegan.bsky.social · Sep 13

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.

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Reposted by Adam Ameur

Tina Han @tingfordha.bsky.social · Sep 12

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

Twist Bioscience @twistbioscience.com · Sep 8

Stanford Health Care is expanding its pharmacogenomics program (SPIRA) into primary care, using long-read sequencing powered by @twistbioscience.com + @pacbio.bsky.social to guide safer, more personalized prescriptions.
👇

Stanford PGx Program Expands to Primary Care Population With Long-Read Sequencing Panel

With grant funding from an in-house program called Catalyst, collaborators began an upfront pharmacogenomics pilot earlier this year in elder care, which is now expanding to the primary care setting.

www.precisionmedicineonline.com

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Heng Li @lh3lh3.bsky.social · Sep 12

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

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Adam Ameur @adameur.bsky.social · Sep 10

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...

Accurate characterization of CRISPR-Cas9 genome editing outcomes and mosaicism with near-perfect long reads

Background: Genetic mosaicism is a consequence of CRISPR-Cas9 genome editing that is difficult to study, especially when it involves structural variants occurring at low frequency. A comprehensive ana...

www.biorxiv.org

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bioRxiv Genomics @biorxiv-genomic.bsky.social · Sep 9

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

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CNAG @cnag-eu.bsky.social · Sep 8

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...

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SciLifeLab National Genomics Infrastructure - NGI @scilifelab-ngi.bsky.social · Sep 8

🚨 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

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Jens Daniel Müller @jens-d-mueller.bsky.social · Sep 2

🌊 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...

Unexpected decline in the ocean carbon sink under record-high sea surface temperatures in 2023 - Nature Climate Change

The ocean carbon sink strengthened in previous warm El Niño years due to reduced CO2 outgassing in the tropics. Here the authors show that the ocean carbon sink declined in 2023 despite record-high se...

doi.org

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