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GORpipe: a query tool for working with sequence data based on a Genomic Ordered Relational (GOR) architecture.

Hákon Guðbjartsson1, Guðmundur Fr Georgsson2, Sigurjón A Guðjónsson2

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A new software system, GORpipe, offers an efficient framework for analyzing large DNA sequence datasets. This tool facilitates tasks like variant annotation and genomic feature analysis.

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Area of Science:

  • Bioinformatics
  • Genomics
  • Computational Biology

Background:

  • Managing and analyzing large-scale DNA sequence data presents significant computational challenges.
  • Existing frameworks may lack the efficiency and coherence required for complex genomic analyses.

Purpose of the Study:

  • To develop a general-purpose relational data format and analysis tools for efficient DNA sequence data management.
  • To create a coherent framework for handling large volumes of genomic data.

Main Methods:

  • Development of the GORpipe software system, featuring a genomic ordered architecture.
  • Implementation of a declarative query language combining SQL and shell pipe syntax.
  • Application of the system for sequence variant annotation and genomic feature analysis.

Main Results:

  • GORpipe provides an efficient and coherent framework for large-volume DNA sequence data analysis.
  • The system enables annotation of sequence variants and identification of genomic spatial overlaps.
  • It offers flexible filtering and aggregation capabilities for genomic features.

Conclusions:

  • GORpipe represents a novel approach to genomic data analysis.
  • The software system enhances the efficiency of working with large DNA sequence datasets.
  • It provides a versatile platform for various genomic research tasks.