Project Title *
Sandhi Gene Variant Analysis (Sandhi GVA)
Brief description about the project under TIDE 2.0 along with specific goals to be
achieved *
Description of the Project
Build a prototype that demonstrates the ability to identify and prioritise potential gene variants
using outputs from select variant annotation tools. The prototype will additionally demonstrate a
knowledge framework that can be used to build a self-learning and intelligent knowledge base of
identified potential gene variants for the Indian population.
Specific Goals
1. Connect Scientific information from stand-alone variant annotation outputs using contextual
information from reputed scientific vocabularies (built by the bio-medical community)
2. A robust knowledge framework for application of intelligence from past Gene Variant Analysis
especially for the Indian population.
3. Build a flexible and intuitive algorithm for identification and prioritization of gene variants that
can be controlled and used effectively by the bio-informaticians
Milestone-1 Objectives & Deliverables
Objectives:
Present the business and research strategy for our idea
Deliverables:
1. Present Literature Survey on existing products / initiatives in the market and
comparisons with our idea
2. Present our business and research strategy from idea to prototype, to MVP and beyond
Milestone-2 Objectives & Deliverables (To be presented after 3 months)
Objectives:
Present a working prototype showcasing limited functionality for prioritization of gene variants
and the application of the self-learning knowledge framework. Collect crucial feedback on how
the prototype could be enhanced for its success in the market as a useful product especially for
the Indian population.
Deliverables:
1. Build the first stage working prototype showcasing the goals of the prototype specifically
in the areas of
a. Application of the self-learning knowledge framework
b. A preliminary AI augmented rules engine for identification and prioritisation of
gene variants from Whole Exome Sequences (WES) outputs generated by select
variant annotation tools
Milestone-3 Objectives & Deliverables (To be presented after 9 months)
Objectives:
Present a working prototype showcasing advanced functionality for prioritization of gene
variants and the self-learning knowledge framework using datasets that have been ingested from
various sources. Collect feedback on transitioning the prototype to a MVP.
Deliverables:
1. Demonstrate Sandhi GVA using a variety of variant annotation outputs preferably
generated from a selection of leading variant annotation tools.
2. Demonstrate the power of linked data and the possibilities of the knowledge framework
for extracting and applying intelligence from past gene variant analysis
Milestone-4 Objectives & Deliverables (To be presented in 12th month)
Objectives:
Present the business and research strategy for the next phase of activities transitioning to
Product Development
Deliverables:
1. Roadmap for the product, market outreach, research goals and sustenance
2. Financial and other needs for the next phase
3. Presentation of current stage of Sandhi GVA – what has been achieved vis-à-vis goals
envisaged in the beginning