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Targeted Next-Generation Sequencing in Rare Diseases.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2025

Kristan Aleša, Debeljak Nataša

Abstract excerpt

Targeted next-generation sequencing (NGS) in rare disease focuses on genetic analysis of specific regions in genome that are linked to a rare disease. In addition to library preparation, sequencing, and data analysis, targeted NGS includes an additional step of target enrichment of selected genes and regions. It allows for more sensitive and profound sequencing, as it is a fast and cost-effective approach with...

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PMID: 39546196
DOI: 10.1007/978-1-0716-4192-7_3

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