Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice?

Next-generation sequencing (NGS)’s crucial role in supporting genetic diagnosis and personalized medicine leads to the definition of Guidelines for Diagnostic NGS by the European Society of Human Genetics. Factors of different nature producing false-positive/negative NGS data together with the pauci...

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Detalles Bibliográficos
Autores principales: De Cario, Rosina, Kura, Ada, Suraci, Samuele, Magi, Alberto, Volta, Andrea, Marcucci, Rossella, Gori, Anna Maria, Pepe, Guglielmina, Giusti, Betti, Sticchi, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7738558/
https://www.ncbi.nlm.nih.gov/pubmed/33343633
http://dx.doi.org/10.3389/fgene.2020.592588

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7738558/
https://www.ncbi.nlm.nih.gov/pubmed/33343633
http://dx.doi.org/10.3389/fgene.2020.592588

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