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Researching novel variants involved in Alzheimer’s disease via next generation sequencing variant analysis on RNA sequence data files

Bhagwat R., Joshi B. J., Chaudhary S., Pardeshi T. A.*, Mujawar S. N., Talware S. S., Chakraborty S. S., Kandale V. V.


Previous and current research studies have been reporting or refuting susceptibility genes which have any minor or major genetic significance to Alzheimer disease. In our study we have obtained datasets from R. N. A. sequencing analysis performed on post-mortem brain tissues of clinically diagnosed Alzheimer’s male patients above the age of 80. The samples included in our study are grouped into three datasets as frontal brain, temporal brain and whole brain. Our sole purpose of the study was to decipher new S. N. PS if any and report any unreported or untested S. N. Ps related to genes. We have performed mRNA sequencing analysis with the help of Next Generation Sequencing GALAXY tool available online. In addition, we have utilized Integrated Genome Browser (IGB) to visualize our results. P. E. RL Programming algorithm was generated and NCBI’s dbSNP (Database of Single Nucleotide Polymorphisms) and Clin V.A. R (Clinical Variation) databases helped to obtain rsids and related information for galaxy analyses results. Our study is reporting and/or confirming pathogenicity of P. R. N. P, A. P. O. E, CST3, TUBB2B and F. T. L in the AD brain tissues. A growing study of PRNP gene has indicated a strong genetic association with AD yet more research with a bigger sample size in different populations will be of certain significance. Further research is needed for studying the TUBB2B gene due to its uncertain significance in the earlier research in Alzheimer’s. F. T. L is a recent gene which has been linked to A. D and future research in AD should be conducted targeting this specific gene.



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