Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity

Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity

Abstract Objectives Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants from whole-exome sequencing (WES) data comprises...

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Bibliographic Details
Main Authors: Cristina Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flávia Anisio Amendola, Fernanda Pinto-Mariz, Monica Soares de Souza, Patrícia Carvalho Batista Miranda, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris, Ana Tereza Ribeiro Vasconcelos
Format: Article
Language:English
Published: BMC 2023-06-01
Series:BMC Genomic Data
Subjects:
Whole exome sequencing
Single nucleotide variants
Monogenic disorder
Inborn errors of immunity
Online Access:https://doi.org/10.1186/s12863-023-01137-2

Internet

https://doi.org/10.1186/s12863-023-01137-2

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