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

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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Bibliographic Details
Main Authors: Antonio Marcondes Lerario, Dipika R. Mohan, Luciana Ribeiro Montenegro, Mariana Ferreira de Assis Funari, Mirian Yumie Nishi, Amanda de Moraes Narcizo, Anna Flavia Figueredo Benedetti, Sueli Mieko Oba-Shinjo, Aurélio José Vitorino, Rogério Alexandre Scripnic Xavier dos Santos, Alexander Augusto de Lima Jorge, Luiz Fernando Onuchic, Suely Kazue Nagahashi Marie, Berenice Bilharinho Mendonca
Format: Article
Language:English
Published: Elsevier España 2020-08-01
Series:Clinics
Subjects:
Next Generation Sequencing
Database
Mendelian Disorders
Brazil
Population Genetics
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322020000100260&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322020000100260&tlng=en

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