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Efficient Annotation of Variant Calls: Next Generation Seque | 61621

Journal du séquençage et des applications de nouvelle génération

ISSN - 2469-9853

Abstrait

Efficient Annotation of Variant Calls: Next Generation Sequencing

Muntaser Ibrahim

The tremendous and unprecedented insights provided by next generation sequencing into genome functions, variations and interactions promises an enormous shift in our attitude towards individual and population genetics, both in health and disease. Concepts and paradigms could be verified or nullified based on large complete sets of data rather than few genes or inference from large sets of comparison with substantial gaps like genome wide association studies (GWAS). Functional variant(s) may be associated with phenotypes at a “personalized” level. Rare variants underlying common diseases-and even underlying variations in health-are a frequent encounter in the genomic era. Simple inductive generalizations would hastily blur the lines between what is a true abnormality and what is not. 

Avertissement: Ce résumé a été traduit à l'aide d'outils d'intelligence artificielle et n'a pas encore été examiné ni vérifié