PheWAS Solutions

Accelerating Drug Discovery with AI/ML-Powered PheWAS Solutions

Context

Unlocking Multi-Trait Associations with PheWAS

PheWAS overview

Phenome-Wide Association Studies (PheWAS) have emerged as a powerful approach to investigate the intricate relationships between genetic variants and a wide range of phenotypic traits, complementing traditional Genome-Wide Association Studies (GWAS). PheWAS examines the associations of a single genetic variant (or a small set of variants) with a broad spectrum of phenotypes. 

Advantages

Why PheWAS?

Aganitha leverages its deep understanding of PheWAS methodologies and platforms, such as PheTK, or CoPheScan, to provide actionable insights and accelerate your drug development process. We customize our pipeline as per the outcome, read length and depth of the analysis

Here’s how Aganitha’s expertise, combined with the power of PheWAS, can transform your drug discovery pipeline:

Discover Novel Drug Targets:

  • Uncover hidden relationships between SNPs, phenotypes, and complex networks of interrelated phenotypes.
  • Identify potential drug targets previously masked by traditional approaches, revealing new avenues for therapeutic intervention.

Identify Pleiotropy:

  • Identify genetic loci/ variants and genes  that influence multiple phenotypes.
  • Drug repurposing/ indication expansion of drug if it MOA lies in the common molecular function influenced by the pleiotropic loci.  

Gain Mechanistic Insights

  • Understanding the underlying mechanism of complex diseases by deciphering the genome-phenome association

  • PheGWAS- exploring WGS data (including rare variants) from large biobanks to understand cross disease/trait association

Enhance Hypothesis Generation

  • Provide a data-driven approach to generate new hypotheses about disease associations and potential therapeutic interventions.
  • Accelerate the drug discovery pipeline by identifying promising research avenues.
  • With the availability of large consortium data (GIANT, CKDgen, Global Lipids Genetics Consortium) help elucidate the genetic architecture of shared components of the complex disorders (e.g cardiometabolic syndromes)

Drug repurposing opportunities

  • If a SNP associated with a specific disease is also found to be associated with other diseases for which treatments already exist, those existing drugs could be explored as potential therapies for the primary disease.

Why Us?

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Commitment to Quality and Accuracy

Data quality is paramount to the success of any PheWAS analysis. We emphasize robust quality control at both the sample and genomic data levels, ensuring the accuracy and reliability of your results.

Scalability and Adaptability

Aganitha’s solutions are designed to handle the scale and complexity of large biobank datasets, leveraging tools like REGENIE for efficient analysis. We understand that each research question is unique and can adapt its pipelines to accommodate diverse data types and project requirements.

Advanced Statistical Analysis & Automation

Aganitha’s automated pipelines incorporate rigorous statistical methods to manage and control for numerous biological variables, providing high precision in uncovering meaningful associations within complex datasets.

Data Visualization & Interpretation

We offer intuitive and detailed visualizations of PheWAS results, helping researchers interpret complex associations and uncover new biological insights quickly and effectively.

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