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

I dag toppar SVT.se med en Lancet-studie från 2021: kylan dödar fler än värmen. Att den dyker upp just nu är ingen slump. Varje gång någon skriver om uppvärmning och dödsfall översköljs tråden av mindre konton som länkar den. Jag har sett det i flera år.

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🔥 Does switching to a pangenome reference actually improve your association study? We tested it, and the answer is yes, measurably. Our preprint is online now: "Pangenome-based human genome analysis improves trait association and genomic prediction": doi.org/10.64898/202...

Pangenome-based human genome analysis improves trait association and genomic prediction

The Human Pangenome Reference Consortium has generated 462 open-access reference genomes and a variation graph that represents differences among them, providing a substrate for pangenome-based analysi...

doi.org

For those interested in PacBio's SPRQ-Nx chemistry and reusable SMRT Cells: in the Genome of Sweden project, we moved from 2 to 3 acquisitions per SMRT Cell in June. The results are impressive—we’re now approaching 400 Gb HiFi yield from a single SMRT Cell!

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How good is MiniBWA, the successor to BWA? To test it, I ran MiniBWA on sequencing from 76 different species, comparing mapping speed, rate and accuracy with BWA MEM. In short, it's really good. If you map short reads, it's well worth your time. andrewcarroll.github.io/2026/06/30/t...

The Best of Both Worlds - Assessing MiniBWA

Recently, Heng Li released MiniBWA (GitHub) alongside a paper by Heng Li and Nils Homer describing the method (paper). MiniBWA builds on the approaches in Minimap2 (also by Heng Li), but falls back on...

andrewcarroll.github.io

Excited to share our ‘perspective’ on significant impact long-read sequencing technologies, genome assemblies and better (AI-assisted) interpretation-tools will bring to our field of medical genetics – as we are entering an era of “near-perfect genome sequencing”. www.nature.com/articles/s41...

Near-perfect genome sequencing in medical genetics - Nature Genetics

This Perspective introduces near-perfect genome sequencing, which encompasses diploid genome assembly, pangenome references and artificial intelligence-driven variant interpretation, and proposes a ro...

nature.com

SciLifeLab Planetary Biology invites researchers across Sweden to submit their existing eDNA/metabarcoding extraction and library-preparation protocols for development into production-scale workflows. Read more and apply: www.scilifelab.se/news/planeta...

Planetary Biology Call for eDNA/Metabarcoding Protocol Pilots

The SciLifeLab Planetary Biology Capability (PB Capability) invites researchers across Sweden to propose ideas that will drive significant advancements in environmental life sciences, are based on the...

scilifelab.se

The FDA's new draft guidance on genome editing safety highlights why detecting large indels and chromosomal abnormalities is critical, where short-reads fall short. HiFi sequencing offers >99.9% accuracy to characterize all editing outcomes. Learn more: bit.ly/49ZpV4S

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These are beta test results of PacBio's reusable SMRT-cells, run on human blood DNA from the "Genome of Sweden" project. Results have been really impressive so far, with an average >250Gb per SMRT-cell over 2 acquisitions. We are now about to expand to 3 acquisitions

PacBio@pacbio.bsky.social · 2mo ago

Sharing results from a beta test of PacBio’s SPRQ-Nx reusable SMRT cells using two acquisitions! This increased SMRT cell throughput reduces sequencing costs for large human WGS projects. #ESHG2026 #PacBio #ESHG

Expressions of interest are invited for this comprehensive course, equipping you with the skills and knowledge needed to design, perform, and analyse #longread #singlecell RNA-seq experiments from end to end. 🗓️ 17 - 19 November 2026 Register interest below! ⤵️

Single-cell Long-read Bioinformatics: from Data Generation to Visualisation

Hands on training in long‑read single‑cell RNA‑seq, from experimental design to data interpretation

buff.ly