Correlation between the number of false positive variants and the quality of results using Ion Torrent PGM™ sequencing to screen BRCA genes

• Published in: Biomédica
• Main Authors: Tiago César Gouvêa Moreira, Pricila da Silva Spínola, Micheline Campos Rezende, Carla Simone Moreira de Freitas, Fábio Borges Mury, Cibele Rodrigues Bonvicino, Luciana de Andrade Agostinho
• Format: Article in Journal/Newspaper
• Language: English; Spanish
• Published: Instituto Nacional de Salud 2021
• Subjects: sequence analysis; dna; high-throughput nucleotide sequencing; genes; brca1; brca2; Medicine; R; Arctic medicine. Tropical medicine; RC955-962; Arctic; Indel’
• Online Access: https://doi.org/10.7705/biomedica.5663; https://doaj.org/article/8fdcb9a86d294d89bce01e47e60ba678

Introduction: Next Generation Sequencing (NGS) is cost-effective and a faster method to study genes, but its protocol is challenging. Objective: To analyze different adjustments to the protocol for screening the BRCA genes using Ion Torrent PGM sequencing and correlate the results with the number of...