Modelling the bioinformatics tertiary analysis research process

Area of Science:

• Bioinformatics
• Genomic Data Analysis
• Computational Biology

Background:

• Advancements in Next Generation Sequencing generate vast genomic data requiring computational analysis.
• Bioinformatics Tertiary Analysis, the final stage, lacks a systematic process model.
• Current tools are data-centric, not process-oriented, leading to usability and integration issues.

Purpose of the Study:

• To propose a conceptual model for Bioinformatics Tertiary Analysis.
• To systematically define the human tasks and research methods involved.
• To create a reference model for tool development and comparison.

Main Methods:

• A user study with bioinformatics specialists to elicit a hierarchical task tree.
• Refinement and validation of the task tree using a literature survey of Tertiary Analysis activities.
• Conversion of the task tree into an ontological representation using standard formalisms.

Main Results:

• A reference process model for Bioinformatics Tertiary Analysis was developed.
• The model captures salient characteristics of research methods and human tasks.
• The ontological representation facilitates tool analysis, comparison, and design.

Conclusions:

• The developed process model serves as a valuable reference for the bioinformatics community.
• It aids in analyzing existing tools and designing new, user-centric bioinformatics solutions.
• A new bioinformatics tool, informed by the process model, demonstrates its practical application.