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Article

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

Biomedica : revista del Instituto Nacional de Salud - 15 Dec 2021

Gouvêa Moreira Tiago César, Da Silva Spínola Pricila, Campos Rezende Micheline, Moreira de Freitas Carla Simone, Borges Mury Fábio, Rodrigues Bonvicino Cibele, De Andrade Agostinho Luciana

Abstract excerpt

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 false positive (FP) variants. MATERIAL AND METHODS: We conducted a library preparation process and analyzed the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34936260
DOI: 10.7705/biomedica.5663
PMCID: PMC8768485

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