Assessment and Validation of New Genetic Variants: A Systematic In Silico Approach.
The application of new high-throughput technologies to the study of asthma and other complex diseases is providing a huge amount of genetic information. Particularly, next-generation sequencing generates thousands of variants that have not been previously related to the studied diseases. These new genetic variants require validation both at methodological and clinical level. In this sense, for methodological validation the capillary electrophoresis (CE) sequencing based on Sanger technique continues to be the reference technique. The aim of this chapter is to provide a systematic approach of the in silico procedures to the confirmation of the new genetic variants and to their assessment for the pathogenic condition determination.
Department of Clinical Biochemistry, University Hospital of Salamanca, Paseo de San Vicente 58, Salamanca, 37007, Spain.|Salamanca Institute for Biomedical Research (IBSAL), University Hospital of Salamanca, Salamanca, Spain.
Belén
B
García-Berrocal
Salamanca Institute for Biomedical Research (IBSAL), University Hospital of Salamanca, Salamanca, Spain.|Department of Biomedical and Diagnostic Sciences, University of Salamanca, Salamanca, Spain.
Asunción
A
García-Sánchez
Department of Clinical Biochemistry, University Hospital of Salamanca, Paseo de San Vicente 58, Salamanca, 37007, Spain. misidoro@usal.es.|Salamanca Institute for Biomedical Research (IBSAL), Salamanca, Spain. misidoro@usal.es.|Department of Medicine, University of Salamanca, Salamanca, Spain. misidoro@usal.es.
María
M
Isidoro-García
D001249:Asthma / Q000235:genetics*; D019295:Computational Biology / Q000379:methods*; D003198:Computer Simulation; D019075:Electrophoresis, Capillary; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D017422:Sequence Analysis, DNA
Asthma; Gene; Genotyping; In silico; Polymorphisms; Sanger; Sequencing