Variant prioritisation: From DNA to Diagnosis. How NextGen Accelerates Variant Prioritisation

Variant prioritisation: From DNA to Diagnosis. How NextGen Accelerates Variant Prioritisation

by Luca Remotti | Jul 1, 2025 | Variant Prioritisation Acceleration, A prototype of a European Health Data Space in Cardiovascular Disease management, Cardiovascular disease

Genomic sequencing reveals the full DNA sequence of an individual, uncovering millions of genetic variants—small differences in the nucleotide sequence that make each person unique. Among these, some variants occur in genes or regulatory regions and may influence...

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