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Article

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

2 Dec 2020

Abstract excerpt

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 paucity of internationally accepted guidelines providing specified NGS quality metrics to be followed for diagnostics...

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PMID: 33343633
DOI: 10.3389/fgene.2020.592588

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