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The Genomic Medicine Center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

2025-06-17

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<title>Abstract</title> <p>Background As clinical genetics evolves towards the broader field of clinical genomics, the diagnostic approach to rare diseases is undergoing a paradigm shift. This transformation has significantly impacted rare disease diagnostics, increasingly done through gene panels, whole exome and whole genome sequencing. To advance beyond genomics into precision medicine and encompass the bread...

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Literature Corpus work: af7244c5-b3ac-542a-9549-d8223f324a59
DOI: 10.21203/rs.3.rs-6790162/v1

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