SeqVItA: Sequence Variant Identification and Annotation Platform for Next Generation Sequencing Data.

ABSTRACT: The current trend in clinical data analysis is to understand how individuals respond to therapies and drug interactions based on their genetic makeup. This has led to a paradigm shift in healthcare; caring for patients is now 99% information and 1% intervention. Reducing costs of next generation sequencing (NGS) technologies has made it possible to take genetic profiling to the clinical setting. This requires not just fast and accurate algorithms for variant detection, but also a knowledge-base for variant annotation and prioritization to facilitate tailored therapeutics based on an individual's genetic profile. Here we show that it is possible to provide a fast and easy access to all possible information about a variant and its impact on the gene, its protein product, associated pathways

SUBMITTER: Dharanipragada P 

PROVIDER: S-EPMC6247818 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature