Adam Ameur

Adam Ameur is an Associate Professor in Genomics and Bioinformatics at Uppsala University, affiliated with SciLifeLab. His work develops genomic technologies and infrastructure to advance human genome understanding and disease diagnostics, with expertise in long-read sequencing applications for medical genetics. He leads Sweden's national reference genome project and co-founded the Precision Omics Initiative Sweden (PROMISE).

His research spans:

• Long-read Sequencing
• Clinical Genomics
• Human Genomics
• Bioinformatics
• Transcriptomics
• Medical Genetics

Specializing in structural variant analysis, tandem repeat characterization, and genomic data integration for clinical translation.

Recent publications (2024-2025) emphasize long-read sequencing in population-scale chromosomal rearrangement studies, nanopore-based tandem repeat analysis (pathSTR), and multiomic cancer characterization. A unifying theme is healthcare integration, exemplified by PROMISE's framework for connecting genomic research with clinical practice in Sweden.

He directs the Swedish reference genome initiative and co-leads PROMISE, operating through SciLifeLab's national infrastructure for molecular biosciences.