Varstation

Varstation processes and analyzes next-generation sequencing (NGS) data to detect and interpret human genetic variation for clinical and research applications.


Key Features:

  • Cloud-based processing: Uses cloud computing to process large volumes of NGS data efficiently.
  • Configurable analysis workflows: Supports customizable analysis workflows for different analytical needs and data types.
  • Variant calling and analysis: Integrates advanced algorithms for variant calling and downstream variant analysis.
  • Centralized data management and reporting: Consolidates processing from raw NGS input through to comprehensive report generation.
  • Clinical validation: Provides processes validated for clinical use to support genetic diagnostics.
  • Data security: Operates within a secure infrastructure to protect sensitive genetic information.

Scientific Applications:

  • Clinical genetics and diagnostics: Identification and interpretation of genetic mutations associated with human disease for diagnostic use.
  • Research on genetic disorders: Analysis of human genetic variation in research investigations of disease mechanisms and genotype–phenotype relationships.
  • Precision/personalized medicine: Interpretation of variants to inform individualized genetic insights and potential clinical decision-making.

Methodology:

Varstation employs cloud computing to process large NGS datasets, integrates advanced algorithms for variant calling and analysis, and supports processing from raw NGS data through to report generation with integration into clinical workflows.

Topics

Details

Added:
1/14/2020
Last Updated:
1/2/2021

Operations

Publications

Faria A, Caraciolo M, Minillo R, Almeida T, Pereira S, Cervato M, Filho J. Varstation: a complete and efficient tool to support NGS data analysis. Unknown Journal. 2019. doi:10.1101/833582.