Allelic Dropout Is a Common Phenomenon That Reduces the Diagnostic Yield of PCR-Based Sequencing of Targeted Gene Panels

Primary cardiomyopathies (CMPs) are monogenic but multi-allelic disorders with dozens of genes involved in pathogenesis. The implementation of next-generation sequencing (NGS) approaches has resulted in more time- and cost-efficient DNA diagnostics of cardiomyopathies. However, the diagnostic yield...

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Detalles Bibliográficos
Autores principales: Shestak, Anna G., Bukaeva, Anna A., Saber, Siamak, Zaklyazminskaya, Elena V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7901947/
https://www.ncbi.nlm.nih.gov/pubmed/33633783
http://dx.doi.org/10.3389/fgene.2021.620337

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7901947/
https://www.ncbi.nlm.nih.gov/pubmed/33633783
http://dx.doi.org/10.3389/fgene.2021.620337

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