Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory

BACKGROUND: The widespread clinical application of genome-wide sequencing has resulted in many new diagnoses for rare genetic conditions, but testing regularly identifies variants of uncertain significance (VUS). The remarkable rise in the amount of genomic data has been paralleled by a rise in the...

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Detalles Bibliográficos
Autores principales: Caswell, Richard C., Gunning, Adam C., Owens, Martina M., Ellard, Sian, Wright, Caroline F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9308257/
https://www.ncbi.nlm.nih.gov/pubmed/35869530
http://dx.doi.org/10.1186/s13073-022-01082-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9308257/
https://www.ncbi.nlm.nih.gov/pubmed/35869530
http://dx.doi.org/10.1186/s13073-022-01082-2

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