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, usin...

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Autores:
Tipo de recurso:
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
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License
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