Candidate gene discovery in autoimmunity by using extreme phenotypes, next generation sequencing and whole exome capture

Whole exome sequencing (WES) is a widely used strategy for detection of protein coding and splicing variants associated with inherited diseases. Many studies have shown that the strategy has been broad and proficient due to its ability in detecting a high proportion of disease causing variants, using only a small portion of the genome. In this review we outline the main steps involved in WES, the comprehensive analysis of the massive data obtained including the genomic capture, amplification, sequencing, alignment, curating, filtering and genetic analysis to determine the presence of candidate variants with potential pathogenic/functional effect. Further, we propose that the multiple autoimmune syndrome, an extreme phenotype of autoimmune disorders, is a very well suited trait to tackle genomic variants of major effect underpinning the lost of self-tolerance. © 2014 Elsevier B.V.

• Fecha de publicación: 2015
• Institución: Universidad del Rosario
• Repositorio: Repositorio EdocUR - U. Rosario
• Idioma: eng
• OAI Identifier: oai:repository.urosario.edu.co:10336/23234
• Acceso en línea: https://doi.org/10.1016/j.autrev.2014.10.021; https://repository.urosario.edu.co/handle/10336/23234
• Palabra clave: Autoimmune disease; Autoimmunity; Bioinformatics; Exome; Gene mapping; Genetic variability; Human; Next generation sequencing; Nonhuman; Phenotype; Review; Sequence analysis; Whole exome sequencing; Dna sequence; Genomics; High throughput sequencing; Phenotype; Autoimmunity; Exome; Genomics; High-throughput nucleotide sequencing; Humans; Phenotype; Multiple autoimmune syndrome; Next generation sequencing; Polyautoimmunity; Whole exome sequencing; Whole genome sequencing; dna; Sequence analysis
• License: Abierto (Texto Completo)