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

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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Bibliographic Details
Main Authors: Rosina De Cario, Ada Kura, Samuele Suraci, Alberto Magi, Andrea Volta, Rossella Marcucci, Anna Maria Gori, Guglielmina Pepe, Betti Giusti, Elena Sticchi
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-12-01
Series:Frontiers in Genetics
Subjects:
high-throughput sequencing
next generation sequencing
Sanger sequencing
sequencing validation
discrepancy
allelic drop-out
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2020.592588/full

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