Assessment and Validation of New Genetic Variants: A Systematic In Silico Approach.
Methods Mol Biol
; 1434: 15-27, 2016.
Article
em En
| MEDLINE
| ID: mdl-27300528
ABSTRACT
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.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Asma
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Variação Genética
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Biologia Computacional
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article