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Sample Tracking Tool: A Comprehensive Approach Based on OpenArray Technology and R Scripting for Genomic Sample Monitoring.


ABSTRACT: Background/Objectives: Centralizing genetic sequencing in specialized facilities is pivotal for reducing the costs associated with diagnostic testing. These centers must be able to verify data quality and ensure sample integrity. This study aims at developing a protocol for tracking NGS-analyzed samples to prevent errors and mix-ups, ensuring proper quality control, accuracy, and reliability in genetic testing procedures. To this purpose, a protocol based on the genotyping of a panel of 60 single-nucleotide polymorphisms (SNPs) by OpenArrayTM technology was employed. Methods: The protocol was initially tested on a cohort of 758 samples and subsequently validated on a cohort of 100 samples. Furthermore, its ability to accurately detect identical and different sample

SUBMITTER: Trastulli G 

PROVIDER: S-EPMC11763353 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature