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A. Ameur

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Open access Oct 2026

A national ecosystem for long-read genome sequencing: Integrating population genomics and rare disease diagnostics in Sweden

To evaluate the clinical implementation of long-read genome sequencing (lrGS) and establish the population reference resources needed to support its use in diagnostics, we integrate two complementary initiatives: Genome of Sweden (GoS), Sweden's contribution to Genome of Europe (GoE), and the Genomic Medicine Sweden -...

A. Ameur, F. Taylan, M. Ek et al. · 0 citations
Review Aug 2026

Toward the clinical application of long-read sequencing in repeat-expansion disorders

This Perspective by the LRS-RED consortium discusses methodological, bioinformatic and diagnostic advances in long-read sequencing (LRS) for repeat-expansion disorders, highlighting the potential of LRS to reshape research and clinical practice.

L. Benarroch, J. Pešović, Marzia Rossato et al. · 0 citations

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