J. Eisfeldt

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 -...