Development of a cloud-based ocular pipeline for personal and preventive care

Student name: Mr Subhodeep Chatterjee
Guide: Prof. Ramakrishnan Sitaraman
Year of completion: 2022
Host Organisation: Genomage LLC, Sheridan, Wyoming, U.S.A.
Supervisor (Host Organisation): Mr Krishna Annamraju

---

Abstract:

The project is a part of genome-wide association studies related to congenital ocular diseases. We aim to develop a genomics-based bioinformatics pipeline specific for ocular diseases which is not currently available. Most of the pipelines are available for diseases like cancer and other diseases. The pipeline is also equipped with tools to discover biomarker candidates related to ocular diseases. The project also validates the pipeline using a dataset related to a known disease here in our case retinitis pigmentosa, where the pipeline was able to successfully predict variants related to retinitis pigmentosa and also was able to uncover biomarker candidates related to gene SPTA1.

Keywords– Ophthalmology, Next-generation sequencing, Nextflow , python-programming , retinitis pigmentosa.