Article
Computational and experimental methods for classifying variants of unknown clinical significance.
Cold Spring Harbor molecular case studies - 1 Apr 2022
Spielmann Malte, Kircher Martin
Abstract excerpt
The increase in sequencing capacity, reduction in costs, and national and international coordinated efforts have led to the widespread introduction of next-generation sequencing (NGS) technologies in patient care. More generally, human genetics and genomic medicine are gaining importance for more and more patients. Some communities are already discussing the prospect of sequencing each individual's genome at time...
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