Adam Ameur
@adameur.bsky.social
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
Pinned
Adam Ameur
@adameur.bsky.social
· Dec 5
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
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-...
Reposted by Adam Ameur
Great to see our new preprint our. Thanks for everybody of the HiFi Solves EMEA consortium for their valuable contribution - this study was driven by the wonderful @bartvds.bsky.social @radboudumc.bsky.social!
Exciting to show clinical utility of lrGS in multi-center study.
Exciting to show clinical utility of lrGS in multi-center study.
A new multi-center study from the EMEA HiFi Solves Consortium shows the clinical research potential of HiFi. Combined with our latest informatics pipeline, HiFi identified 100% of clinically relevant variants across 11 complex regions, including those short reads missed.
👉 bit.ly/4oqMWCY
👉 bit.ly/4oqMWCY
November 7, 2025 at 12:50 PM
Great to see our new preprint our. Thanks for everybody of the HiFi Solves EMEA consortium for their valuable contribution - this study was driven by the wonderful @bartvds.bsky.social @radboudumc.bsky.social!
Exciting to show clinical utility of lrGS in multi-center study.
Exciting to show clinical utility of lrGS in multi-center study.
Reposted by Adam Ameur
About fifteen years ago, scientists at SciLifeLab and @umeaplantsciencecentre.se teamed up to sequence the enormous spruce genome 🧪 🖥️ 🧬
youtu.be/5eO0C3tDNDM
Featured here: @forsbergnilsson.bsky.social (UU), Pär Ingvarsson (SLU, prev. @umeauniversitet.bsky.social) & Björn Nystedt (@nbis.se)
youtu.be/5eO0C3tDNDM
Featured here: @forsbergnilsson.bsky.social (UU), Pär Ingvarsson (SLU, prev. @umeauniversitet.bsky.social) & Björn Nystedt (@nbis.se)
A "bold move": The story of the first spruce DNA map
YouTube video by SciLifeLab
youtu.be
November 5, 2025 at 2:29 PM
About fifteen years ago, scientists at SciLifeLab and @umeaplantsciencecentre.se teamed up to sequence the enormous spruce genome 🧪 🖥️ 🧬
youtu.be/5eO0C3tDNDM
Featured here: @forsbergnilsson.bsky.social (UU), Pär Ingvarsson (SLU, prev. @umeauniversitet.bsky.social) & Björn Nystedt (@nbis.se)
youtu.be/5eO0C3tDNDM
Featured here: @forsbergnilsson.bsky.social (UU), Pär Ingvarsson (SLU, prev. @umeauniversitet.bsky.social) & Björn Nystedt (@nbis.se)
Excited to see our work featured! We evaluated PureTarget for verification of CRISPR-Cas9 genome editing outcomes, with great results. Read more in the publication spotlight by @pacbio.bsky.social and in our preprint: www.biorxiv.org/content/10.1...
www.pacb.com/blog/publica...
www.pacb.com/blog/publica...
Publication spotlight:Capturing the full picture of genome editing with custom PureTarget panels - PacBio
Genetic mosaicism can occur within genome editing. Accurately characterize every edit within a model with PureTarget.
www.pacb.com
October 31, 2025 at 1:07 PM
Excited to see our work featured! We evaluated PureTarget for verification of CRISPR-Cas9 genome editing outcomes, with great results. Read more in the publication spotlight by @pacbio.bsky.social and in our preprint: www.biorxiv.org/content/10.1...
www.pacb.com/blog/publica...
www.pacb.com/blog/publica...
Reposted by Adam Ameur
Heart ‘blueprint’ made openly available in unique resource 🧪
A detailed map showing how different groups of cells are arranged and how they interact in fetal #HeartDevelopment, now published by SciLifeLab and KTH researchers. ↓
www.scilifelab.se/news/cellula...
#OpenAccess #SpatialTranscriptomics
A detailed map showing how different groups of cells are arranged and how they interact in fetal #HeartDevelopment, now published by SciLifeLab and KTH researchers. ↓
www.scilifelab.se/news/cellula...
#OpenAccess #SpatialTranscriptomics
Heart ‘blueprint’ made openly available in unique resource
A detailed map of the developing human heart, showing different groups of cells and how they interact in fetal heart development, have been published by a team led by SciLifeLab and KTH Royal Institut...
www.scilifelab.se
October 30, 2025 at 10:14 AM
Heart ‘blueprint’ made openly available in unique resource 🧪
A detailed map showing how different groups of cells are arranged and how they interact in fetal #HeartDevelopment, now published by SciLifeLab and KTH researchers. ↓
www.scilifelab.se/news/cellula...
#OpenAccess #SpatialTranscriptomics
A detailed map showing how different groups of cells are arranged and how they interact in fetal #HeartDevelopment, now published by SciLifeLab and KTH researchers. ↓
www.scilifelab.se/news/cellula...
#OpenAccess #SpatialTranscriptomics
Reposted by Adam Ameur
Improving long-read somatic structural variant calling with pangenome and de novo personal genome assembly https://www.biorxiv.org/content/10.1101/2025.10.28.685154v1
October 29, 2025 at 5:33 AM
Improving long-read somatic structural variant calling with pangenome and de novo personal genome assembly https://www.biorxiv.org/content/10.1101/2025.10.28.685154v1
Reposted by Adam Ameur
We’re thrilled to announce the first symposium dedicated to #LongReadsTranscriptomics, taking place in Valencia, Spain!
More information available at: 👉 longtrec.eu/VALT/
Meet the #LongReadsTranscriptomics community, connect with experts, and explore the latest advances in this research area.
More information available at: 👉 longtrec.eu/VALT/
Meet the #LongReadsTranscriptomics community, connect with experts, and explore the latest advances in this research area.
October 27, 2025 at 11:15 AM
We’re thrilled to announce the first symposium dedicated to #LongReadsTranscriptomics, taking place in Valencia, Spain!
More information available at: 👉 longtrec.eu/VALT/
Meet the #LongReadsTranscriptomics community, connect with experts, and explore the latest advances in this research area.
More information available at: 👉 longtrec.eu/VALT/
Meet the #LongReadsTranscriptomics community, connect with experts, and explore the latest advances in this research area.
Reposted by Adam Ameur
I am looking to get my hands on some #Illumina 5-base methylation data - does anyone have a bam file that I could use for some testing? Please RT for reach!
October 21, 2025 at 9:36 AM
I am looking to get my hands on some #Illumina 5-base methylation data - does anyone have a bam file that I could use for some testing? Please RT for reach!
Reposted by Adam Ameur
We investigated Constellation from Illumina @bcmhgsc.bsky.social for rare disease cases @gregor-research.bsky.social from @bcmhouston.bsky.social.
We tested HG002-4 & sequenced 21 families. We could detangle complex SV & other interesting findings described here: www.medrxiv.org/content/10.1...
We tested HG002-4 & sequenced 21 families. We could detangle complex SV & other interesting findings described here: www.medrxiv.org/content/10.1...
Constellation illuminates rare disease genetics
Despite significant advances in genomic sequencing, the resolution of many rare disease cases is still hindered by variant detection limitations. Short reads struggle in homologous regions, and long r...
www.medrxiv.org
October 20, 2025 at 1:40 PM
We investigated Constellation from Illumina @bcmhgsc.bsky.social for rare disease cases @gregor-research.bsky.social from @bcmhouston.bsky.social.
We tested HG002-4 & sequenced 21 families. We could detangle complex SV & other interesting findings described here: www.medrxiv.org/content/10.1...
We tested HG002-4 & sequenced 21 families. We could detangle complex SV & other interesting findings described here: www.medrxiv.org/content/10.1...
Reposted by Adam Ameur
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...
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...
October 14, 2025 at 2:17 PM
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...
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...
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...
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
October 13, 2025 at 12:26 PM
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...
Great work led by Pontus Höijer and Robert Månsson.
www.biorxiv.org/content/10.1...
Reposted by Adam Ameur
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]...
October 10, 2025 at 3:24 PM
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]...
Reposted by Adam Ameur
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
October 9, 2025 at 3:47 PM
Some thoughts on the blossoming of genomic medicine stimulated by the excellent @ga4gh.org meeting in lovely Uppsala Sweden. www.linkedin.com/pulse/though...
Reposted by Adam Ameur
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...
(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
October 8, 2025 at 3:51 PM
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...
(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...
Reposted by Adam Ameur
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...
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
October 8, 2025 at 2:41 PM
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...
jobs.silkroad.com/NYGenome/Car...
Reposted by Adam Ameur
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
September 30, 2025 at 2:19 AM
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
Reposted by Adam Ameur
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
September 26, 2025 at 8:58 AM
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....
Reposted by Adam Ameur
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-...
www.science.org/content/arti...
www.washingtonpost.com/health/2025/...
www.economist.com/science-and-...
September 25, 2025 at 8:13 PM
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-...
www.science.org/content/arti...
www.washingtonpost.com/health/2025/...
www.economist.com/science-and-...
Reposted by Adam Ameur
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.
September 25, 2025 at 3:09 PM
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.
Reposted by Adam Ameur
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...
Press release - www.pacb.com/press_releas...
LinkedIn
This link will take you to a page that’s not on LinkedIn
lnkd.in
September 22, 2025 at 5:43 PM
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...
Press release - www.pacb.com/press_releas...
Reposted by Adam Ameur
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
September 22, 2025 at 5:01 PM
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...
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
September 22, 2025 at 11:48 AM
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...
genome.cshlp.org/content/earl...
Reposted by Adam Ameur
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
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.
ChatGPT Edu is built for education, with enhanced privacy and security.
September 20, 2025 at 10:41 AM
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
Reposted by Adam Ameur
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...
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
September 15, 2025 at 5:22 AM
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...
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 🧬🇸🇪
September 16, 2025 at 9:38 AM
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 🧬🇸🇪