SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo

OBJECTIVES: High-throughput sequencing of genomes, exomes, and disease-focused gene panels is becoming increasingly common for molecular diagnostics. However, identifying a single clinically relevant pathogenic variant among thousands of genetic polymorphisms is a challenging task. Publicly availabl...

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Detalles Bibliográficos
Autores principales: Lerario, Antonio Marcondes, Mohan, Dipika R., Montenegro, Luciana Ribeiro, Funari, Mariana Ferreira de Assis, Nishi, Mirian Yumie, Narcizo, Amanda de Moraes, Benedetti, Anna Flavia Figueredo, Oba-Shinjo, Sueli Mieko, Vitorino, Aurélio José, dos Santos, Rogério Alexandre Scripnic Xavier, Jorge, Alexander Augusto de Lima, Onuchic, Luiz Fernando, Marie, Suely Kazue Nagahashi, Mendonca, Berenice Bilharinho
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Faculdade de Medicina / USP 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7410354/
https://www.ncbi.nlm.nih.gov/pubmed/32785571
http://dx.doi.org/10.6061/clinics/2020/e1913

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7410354/
https://www.ncbi.nlm.nih.gov/pubmed/32785571
http://dx.doi.org/10.6061/clinics/2020/e1913

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