Enhanced pipeline for pathogenic SNPs correlation: improving diagnostic precision

Numerous genome-wide studies across diverse populations aim to trace key biomarkers associated with specific clinical outcomes. These elements are integral part of our research endeavor, as they harbor potentially critical insights that correlate to various diseases. Our primary focus lies in the identification of Single Nucleotide Polymorphisms (SNP) that are linked to illnesses and establishing a comprehensive database that catalogs pathogenic diseases. Creating a comprehensive repository serves as a facilitating resource for the identification of SNPs that are essential for the developing of the diagnostic tools which are tailored for these disorders. By leveraging datasets from esteemed repositories employing sophisticated data analytic techniques, and through meticulous analysis, we devised an algorithm capable of discerning relevant SNPs from a Variant Call Format (VCF) file. This tool streamlines the diagnostic process, furnishing geneticists with means to assess a genome to measure the susceptibility to diseases associated to certain variant. In essence, our research is based on providing genomic analysis using robust database methodologies that provides sophisticated diagnostic framework for the identification of genetic predispositions.

https://orcid.org/0000-0003-0966-5685