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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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: De Cario, Rosina, Kura, Ada, Suraci, Samuele, Magi, Alberto, Volta, Andrea, Marcucci, Rossella, Gori, Anna Maria, Pepe, Guglielmina, Giusti, Betti, Sticchi, Elena
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7738558/
https://ncbi.nlm.nih.gov/pubmed/33343633
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.592588
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