Validation of an NGS Panel Designed for Detection of Actionable Mutations in Tumors Common in Latin America.

ABSTRACT: Next-generation sequencing (NGS) is progressively being used in clinical practice. However, several barriers preclude using this technology for precision oncology in most Latin American countries. To overcome some of these barriers, we have designed a 25-gene panel that contains predictive biomarkers for most current and near-future available therapies in Chile and Latin America. Library preparation was optimized to account for low DNA integrity observed in formalin-fixed paraffin-embedded tissue. The workflow includes an automated bioinformatic pipeline that accounts for the underrepresentation of Latin Americans in genome databases. The panel detected small insertions, deletions, and single nucleotide variants down to allelic frequencies of 0.05 with high sensitivity, specificity, and re

SUBMITTER: Salvo M 

PROVIDER: S-EPMC8472524 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature