End-sequence profiling

Abstract: Objective: To investigate the role and implications of copy number variations (CNVs) in different diseases found in the human population using various computational tools and databases. Methods: Five different diseases were taken into consideration namely Autism, Type-II Diabetes, Rheumatoid Arthritis, Breast Cancer, and Psoriasis. To validate the CNV's associated with various human diseases different tools and databases were used such as CNV annotator, DECIPHER, Database of Genomic Variants (DGV), CNVD, CNV Workshop, CNV Web store. Finally, the results were analysed to identify the extent of CNVs association in selected diseases. Results: Among all the selected diseases, the maximum numbers of CNV’s were found in the case of breast cancer which in total 3851 at chromosome number one. Among all the selected diseases, minimum numbers of CNV’s were found in the case of psoriasis, and a significant amount of CNVs are present in all the selected diseases. Conclusion: CNVs constitutes a substantial fraction of total genetic variability and it has the importance in modulating human diseases. This study has shown a significant presence of CNVs in all the selected diseases. Hence it can be concluded that CNVs can be major causing factors in many other life threatening diseases as well and a specific study designed to identify these variations can open a new dimension in the development of novel therapy for those diseases.