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Updated: Jul 8, 2025

Next-generation Sequencing of 16S Ribosomal RNA Gene Amplicons
Published on: August 29, 2014
Sanger and Next-Generation Sequencing of AAT
Valentina Barzon1, Ilaria Ferrarotti2, Stefania Ottaviani3
1Department of Internal Medicine and Therapeutics, Pulmonology Unit, University of Pavia, Pavia, Italy.
None:
Sequencing of DNA is normally the final procedure carried out to determine the actual pathogenic variants when the techniques used for genotyping are unable to provide complete identification of both AAT alleles. Gene sequencing of complete SERPINA1 gene by using the Sanger method or next-generation sequencing (NGS) is crucial to enable correct diagnosis in patients with alpha1-antitrypsin deficiency caused by uncommon AAT variants.This protocol explains how to correctly sequence SERPINA1 gene both with Sanger method and NGS.
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