Abstract
Due to the ability to diagnose diseases early and evaluate the effectiveness of medicinal drugs, single nucleotide polymorphism (SNP) identification receives significant interest. Detection and diagnosis of genetic variation through skill-less computational tools would help researchers reducing the severity of such health complications and improving well-tailored therapies using discovered and previously known information. We introduce SNPector, which is a standalone SNP inspection software, which can be used to diagnose gene pathogenicity and drug reaction in naked genomic sequences. It identifies and extracts gene-related SNPs, and reports their genomic position, associated phenotype disorder, associated diseases, linkage disequilibrium, in addition to various drug reaction information. SNPector detects and verifies the existence of an SNP in a given DNA sequence based on different clinically relevant SNP databases, such as NCBI ClinVar, AWESOME, and PharmGKB, and generates highly informative visualizations of the recovered information.
Highlights
In recent years, the number of cases of genetically originated diseases has increased, alarming the world and sparking interest in the development of precision medicine using molecular biomarkers
Single nucleotide polymorphisms (SNPs), the most common genetic difference among individuals, occurs in the human genome. These randomized modifications in DNA bases cause alterations in protein sequence residues of amino acids, altering their functions, which leads to different disease conditions in individuals[1]. Several of these single nucleotide polymorphism (SNP) have been identified as disease-related genetic markers that have been used to recognize genes responsible for particular diseases in humans[2]
Functions The SNPector Python tool uses many packages to inspect the existence of SNPs in a given sequence
Summary
The number of cases of genetically originated diseases has increased, alarming the world and sparking interest in the development of precision medicine using molecular biomarkers. Single nucleotide polymorphisms (SNPs), the most common genetic difference among individuals, occurs in the human genome. These randomized modifications in DNA bases cause alterations in protein sequence residues of amino acids, altering their functions, which leads to different disease conditions in individuals[1]. Several of these SNPs have been identified as disease-related genetic markers that have been used to recognize genes responsible for particular diseases in humans[2]. Clarification of the phenotypic-associative mechanisms for these variations is vital for comprehending the sub-atomic subtleties of disease origin and for developing novel therapeutic methods[3,4]
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