Nov 30, 2018

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

Frontiers in Genetics
Prashanthi DharanipragadaNita Parekh


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 and drug-variant interactions by integrating previously reported knowledge from various databases. With this objective, we have developed a pipeline, Sequence Variants Identification and Annotation (SeqVItA) that provides end-to-end solution for small sequence variants detection, annotation and prioritization on a single platform. Parallelization of the variant detection step and with numerous resources incorporated to infer functional impact,...Continue Reading

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Mentioned in this Paper

Biochemical Pathway
Genomic Profile
Nucleic Acid Sequencing
Receptors, Drug
Massively-Parallel Sequencing
Drug Interactions
Pharmaceutical Preparations
Gene Annotation

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