| Autor: |
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 |
| Jazyk: |
English<br />Spanish; Castilian |
| Rok vydání: |
2021 |
| Předmět: |
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| Zdroj: |
Biomédica: revista del Instituto Nacional de Salud, Vol 41, Iss 4, Pp 773-786 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
0120-4157 |
| DOI: |
10.7705/biomedica.5663 |
| Popis: |
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 number of FP InDels, the library concentration, the number of cycles in the target amplification step, the purity of the nucleic acid, the input, and the number of samples/Ion 314 chips in association with the results obtained by NGS. Results: We carried out 51 reactions and nine adjustments of protocols and observed eight FP InDels in homopolymer regions. No FP Single-Nucleotide Polymorphism variant was observed; 67.5% of protocol variables were jointly associated with the quality of the results obtained (p |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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