Characterizing the pharmacogenome using molecular inversion probes for targeted next-generation sequencing.
Pharmacogenomics
; 20(14): 1005-1020, 2019 09.
Article
em En
| MEDLINE
| ID: mdl-31559919
ABSTRACT
Aim:
This study assesses the technical performance and cost of a targeted next-generation sequencing (NGS) multigene pharmacogenetic (PGx) test. Materials &methods:
A genetic test was developed for 21 PGx genes using molecular inversion probes to generate library fragments for NGS. Performance of this test was assessed using 53 unique reference control cell lines from the Genetic Testing Reference Materials Coordination Program (GeT-RM).Results:
93.7% of variants were successfully called and the repeatability rate was 99.9%. Reference calls were available for 78.4% of diplotype calls resulting from PGx testing, and concordance for the test was 85.7%. Cost per sample was $32-$56.Conclusion:
A targeted NGS assay using molecular inversion probe technology is able to characterize the pharmacogenome efficiently.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Farmacogenética
/
Genoma Humano
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Testes Farmacogenômicos
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article