Adam Ameur is associate professor in genomics and bioinformatics. His work is focused on development of technology and infrastructure, with the aim to improve our knowledge about the human genome and to improve the diagnostics of disease. During the last decade, AA has become a leading expert in long-read sequencing technology and its applications in medical genetics. He is also leading the effort to construct a whole genome data resource of genetic variation for the Swedish population.
Adam Ameur
Uppsala University
Key Publications
Whole genome sequencing with AVITI and NovaSeq X Plus reveals comparable performance with contextual biases
2025
T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population
Genome Research, 2025
Accurate characterization of CRISPR-Cas9 genome editing outcomes and mosaicism with near-perfect long reads
2025
Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare
Nature Medicine, 2025
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
Genome Research, 2024