GWAS Pipeline

Accelerate genomic analysis, target discovery, and drug discovery by efficiently interrogating WES datasets at biobank scale with a proven Genome-wide Association Studies (GWAS) pipeline platform

Context

Streamlining GWAS Analysis for Deeper Insights into Complex Traits

Example - Manhattan plot: The variants (SNPs) with the strongest associations have the greatest negative logarithms, and tower over the background of unassociated SNPs
Manhattan plot depicting the strength of association between genetic SNPs across the genome and a particular trait or disease.
With several disorders finding their genetic causes through genome-wide association studies (GWAS), scientists are closer than ever to understanding the link between genes and complex diseases. However, despite the progress made with GWAS, navigating the analysis itself presents several bottlenecks such as case-control imbalance, sheer volume of data, statistical noise, population stratification bias, and a lack of user-friendly interfaces. Current GWAS tools come with limitations as they are built for specific data formats or require extensive technical knowledge.
Aganitha’s GWAS capabilities can help Biopharma R&D overcome these challenges and accelerate drug discovery. We offer two key solutions:
  • Customizable GWAS Pipelines: We help you build a robust extensible pipeline for all your GWAS analysis needs. Our scientific and technical team will work with you to build a customized platform and pipeline for your GWAS analysis.
  • Actionable Insights from Data: We provide you with a dedicated scientific team to analyze WGS/WES data at a biobank scale and provide actionable insights such as identifying targets, and identifying disease causing variants, etc.
Explore our GWAS pipeline and expedite your discoveries, optimize data analytics, and gain deeper insights.
Our Solution

Accelerate your disease studies using our GWAS platform for genomic analysis

The following our some key features of our pipeline:
  • Available on-demand: Enabling you to access our pipeline that is powered by the Infrastructure as Code approach, supporting both in-house HPC as well as all Cloud-based clusters
  • Cost-effective: Minimizing your expenses by avoiding dependence on expensive proprietary big data stacks such as UK Biobank and related services.
  • Comprehensive: Spanning all activities from data ingestion and QC to cohort selection, regression, and visualization. This puts you in complete control of your analysis, all within a secure environment.
  • Interactive Empowering your scientists to participate actively in the analysis. They can inspect and apply relevant sample and variant QCs, meticulously design study cohorts, and gain deeper insights from their data.
  • Offers seamless expertise: Ensuring comprehensive support throughout your analysis process by leveraging Aganitha’s extensive genomics and technology expertise. Our team becomes an extension of yours, assisting you towards successful outcomes.
  • Streamlined Resources Streamlining your analysis workflows by providing ready access to essential reference datasets, annotation, and visualization tools.
Given a population consisting of individuals with and without disease of interest, the steps involved are whole exome/genome sequencing, within Hail - variant analysis, quality control, LD pruning and statistical analysis followed by downstream analysis
Genome-Wide Association Pipeline

Challenges addressed

At Aganitha, we recognize and understand the complexities that can hinder your progress in GWAS research. We take these challenges head-on and empower your research success. Some of these challenges include:

Customization Needs:

One-size-fits-all solutions rarely succeed. Your data is unique, and so are your analysis requirements. Our expertise in customization allows us to tailor each tool precisely to your specific needs. This unlocks deeper insights and empowers you to achieve research goals with exceptional precision.

Data Compatibility:

Your genomic data is a valuable asset. Proprietary data and diverse datasets can raise compatibility issues. Our team specializes in navigating complexities and ensures our tools remain compatible and effective across various datasets, securing your data while maximizing its utility.

Infrastructure Integration:

Your research is unique and the technology environment is exceptional. Integrating new tools seamlessly can be cumbersome . We ensure that our tools adapt to your specific infrastructure, guaranteeing smooth transitions and enhanced performance for your team.

Usability Hurdles:

Complex tools can hinder progress. You need help with usability issues, especially with tools that are overly sensitive to input. We prioritize user-friendliness. Our intuitive interfaces empower your team to maximize efficiency and productivity.
Outcomes

Maximize Genetic Insights with Aganitha's Services

Targeted Cohorts

You define the research question. We meticulously curate cohorts tailored to your objectives, ensuring precise and relevant genetic analyses. This leads to more meaningful results that propel your research forward.

Deeper Insights

Dive deep into genetic associations with confidence. Our comprehensive analyses, including variant, gene-burden, and eQTL association studies, provide you with rich insights into genetic relationships and heritability.

Empowered Research

Amplify your research capabilities by leveraging Aganitha’s expertise. Our dedicated team augments your setup and analysis, providing invaluable support and guidance every step of the way.

Accelerated Target Discovery

Our high-performance solution delivers exceptional results while putting you in control. This combination of industrial-strength capabilities and affordability allows you to ignite your research instantly, transforming months of setup into just days and accelerating your path to discovery.

Data generation

We identify and integrate critical datasets that can complement your existing research landscape. This ensures you have a comprehensive data foundation for meaningful analysis and propels your research towards breakthroughs.

Multi-Omics Data Integration

Free yourself from the time-consuming task of data wrangling. Our seamless solution integrates GWAS summary statistics with your existing data, allowing you to focus on scientific discovery.

Discover our offerings across the biopharma value chain

Learn more about our GWAS Pipeline