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Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency
- Publication Year :
- 2020
-
Abstract
- Background: Genetic tests for primary immunodeficiency disorders (PIDs) are expensive, time-consuming, and not easily accessible in developing countries. Therefore, we studied the feasibility of a customized single nucleotide variant (SNV) microarray that we developed to detect disease-causing variants and copy number variation (CNV) in patients with PIDs for only 40 Euros. Methods: Probes were custom-designed to genotype 9,415 variants of 277 PID-related genes, and were added to the genome-wide Illumina Global Screening Array (GSA). Data analysis of GSA was performed using Illumina GenomeStudio 2.0, Biodiscovery Nexus 10.0, and R-3.4.4 software. Validation of genotype calling was performed by comparing the GSA with whole-genome sequencing (WGS) data of 56 non-PID controls. DNA samples of 95 clinically diagnosed PID patients, of which 60 patients (63%) had a genetically established diagnosis (by Next-Generation Sequencing (NGS) PID panels or Sanger sequencing), we
Details
- Database :
- OAIster
- Notes :
- Suratannon, N. (Narissara), van Wijck, R.T.A. (Rogier T. A.), Broer, L. (Linda), Xue, L. (Laixi), Meurs, J.B.J. (Joyce) van, Barendregt, B.H. (Barbara), Burg, M. (Mirjam) van der, Dik, W.A. (Willem), Chatchatee, P. (Pantipa), Langerak, A.W. (Anton), Swagemakers, S.M.A. (Sigrid), Goos, J.A.C. (Jacqueline), Mathijssen, I.M.J. (Irene M. J.), Dalm, V.A.S.H. (Virgil), Suphapeetiporn, K. (Kanya), Heezen, K. (Kim), Drabwell, J. (Jose), Uitterlinden, A.G. (AndreĢ), Spek, P.J. (Peter) van der, van Hagen, P.M. (P. Martin)
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1157012687
- Document Type :
- Electronic Resource
- Full Text :
- https://doi.org/10.3389.fimmu.2020.00614