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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Vydáno v:Front Genet
Hlavní autoři: De Cario, Rosina, Kura, Ada, Suraci, Samuele, Magi, Alberto, Volta, Andrea, Marcucci, Rossella, Gori, Anna Maria, Pepe, Guglielmina, Giusti, Betti, Sticchi, Elena
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2020
Témata:
Genetics
On-line přístup: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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