Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics

Background: In the molecular genetic diagnostics of Mendelian disorders, solutions are needed for the major challenge of dealing with the large number of variants of uncertain significance (VUSs) identified using next-generation sequencing (NGS). Recently, promising approaches using constraint metri...

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Detalles Bibliográficos
Autores principales: Alimohamed, Mohamed Z., Westers, Helga, Vos, Yvonne J., Van der Velde, K. Joeri, Sijmons, Rolf H., Van der Zwaag, Paul A., Sikkema-Raddatz, Birgit, Jongbloed, Jan D. H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8921548/
https://www.ncbi.nlm.nih.gov/pubmed/35299955
http://dx.doi.org/10.3389/fgene.2022.824510

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8921548/
https://www.ncbi.nlm.nih.gov/pubmed/35299955
http://dx.doi.org/10.3389/fgene.2022.824510

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