Bioinformatics Approach to Analyze Variants in Retinitis Pigmentosa - By Jeevanjot Kaur
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Retinitis pigmentosa, a set of inherited e ocular illnesses, is a leading cause of progressive retinal impairment around the world. As a result, this group of disorders have been the subject of extensive clinical, and basic research. Occurrence ratio of RP is approximately 1:3500 - 4000. The most popular form of RP is rod-cone dystrophy, where a person experiences nyctalopia as the first symptom i.e night blindness, which is then followed by the gradual loss in the peripheral visual field in daylight leading to tunnel vision, and eventually leads to complete blindness after several decades. The data is taken from NCBI , a public repository of data. The data after collection is analysed using T-BioInfo platform provided by Pine Biotech. For the visualization of data IGV is used to identify the variants.
Results are concluded using IGV software. I picked the 5 positions to study the amino acid change and also the variant type. Also got the functional consequences of the positions I had chosen. The 5 picked positions showed functional consequences , the variants are not found in the chr 1, chr 16 and y- chromosome. Likely the inheritance pattern shown is the arRP and X-linked.
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