Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.

ABSTRACT: Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic immune disorders. While some PIDs can manifest with more than one phenotype, signs, and symptoms of various PIDs overlap considerably. Recently, novel defects in immune-related genes and additional variants in previously reported genes responsible for PIDs have been successfully identified by Next Generation Sequencing (NGS), allowing the recognition of a broad spectrum of disorders. Objective: To evaluate the strength and weakness of targeted NGS sequencing using custom-made Ion Torrent and Haloplex (Agilent) panels for diagnostics and research purposes. Methods: Five different panels including known and candidate genes were used to screen 105 patients with distinct PID features divided

SUBMITTER: Cifaldi C 

PROVIDER: S-EPMC6470723 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature