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Updated: Sep 10, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
GeneRiskCalc: a web-based tool for genetic risk association analysis in case-control studies.
Amrit Sudershan1,2, Kuljeet Singh3, Parvinder Kumar4,5
1Institute of Human Genetics, University of Jammu, Jammu, Jammu & Kashmir, India. amritsudershan0@gmail.com.
Researchers developed GeneRiskCalc, a web tool simplifying genetic association analysis by automating Hardy-Weinberg equilibrium testing and odds ratio calculations. This platform enhances data interpretation and accelerates genetic epidemiology research.
Area of Science:
- Genetics
- Bioinformatics
- Computational Biology
Background:
- Genetic association studies are crucial for identifying disease variants.
- Manual calculations and multiple software hinder analysis of Hardy-Weinberg equilibrium, odds ratios, and confidence intervals.
- A need exists for integrated, user-friendly tools in genetic epidemiology.
Purpose of the Study:
- To develop GeneRiskCalc, an integrated web-based platform for genetic association analysis.
- To automate Hardy-Weinberg equilibrium assessment and odds ratio/confidence interval calculations.
- To provide dynamic data visualization for case-control studies.
Main Methods:
- Developed an HTML/CSS/JavaScript web platform named GeneRiskCalc.
- Implemented automated Hardy-Weinberg equilibrium (HWE) evaluation.
- Integrated odds ratio and 95% confidence interval computation with statistical validation.
- Developed a dynamic Forest Plotter for data visualization.
Main Results:
- GeneRiskCalc demonstrated high computational accuracy in HWE testing and association metrics.
- Results were cross-validated against established statistical methods, confirming reliability.
- The Forest Plotter enabled immediate visualization of effect sizes across genetic models.
Conclusions:
- GeneRiskCalc streamlines genetic epidemiology workflows by integrating essential analytical steps.
- The user-friendly interface enhances accessibility, reproducibility, and research speed.
- The tool is freely available to facilitate genetic association studies.
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