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Computational and experimental methods for classifying variants of unknown clinical significance

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 an...

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Detalles Bibliográficos
Autores principales: Spielmann, Malte, Kircher, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9059783/
https://www.ncbi.nlm.nih.gov/pubmed/35483875
http://dx.doi.org/10.1101/mcs.a006196