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Efficient Annotation of Variant Calls: Next Generation Sequencing | Abstract
Journal of Next Generation Sequencing & Applications

Journal of Next Generation Sequencing & Applications
Open Access

ISSN: 2469-9853

Abstract

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. 

Published Date: 2021-01-30; Received Date: 2020-12-10

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