GeneRiskCalc: a web-based tool for genetic risk association analysis in case–control studies
Amrit Sudershan, Kuljeet Singh, Parvinder Kumar
Abstract
BACKGROUND: Genetic association studies play a pivotal role in identifying disease-associated variants, but researchers face challenges in performing essential calculations like Hardy-Weinberg equilibrium testing, odds ratios, and confidence intervals due to reliance on manual methods or multiple software tools. We aimed to develop GeneRiskCalc, an integrated web-based platform that simplifies genetic association analysis by automating Hardy-Weinberg equilibrium assessment, odds ratios with confidence interval calculation, and visual data presentation in case-control studies. Using an HTML/CSS/JavaScript framework, we developed online software with three core functionalities: (1) automated HWE evaluation, (2) odds ratio with 95% confidence interval computation with statistical validation, and (3) dynamic Forest Plot generation for data visualization. The tool was designed with an intuitive interface to minimize prerequisite statistical expertise. RESULTS: validation) and association metrics (odds ratio and confidence interval). The results were cross-validated against established statistical methods, confirming their reliability. Furthermore, the integrated Forest Plotter enabled immediate visualization of effect sizes across multiple genetic models, facilitating a comprehensive interpretation of genetic associations. CONCLUSION: By integrating essential analytical steps into a single platform, the GeneRiskCalc, streamlines genetic epidemiology workflows, addressing key challenges in data analysis. Its user-friendly interface enhances accessibility, promotes reproducibility, and accelerates research in genetic association studies. The tool is freely available at GeneRiskCalc ( https://sites.google.com/view/GeneRiskCalc/home?authuser=0 ).