DISCOVAR

DISCOVAR performs sensitive variant calling across the human genome to improve detection in low-complexity and segmental duplication regions.

Key Features:

• Enhanced Sensitivity: Improves sensitivity in variant detection, achieving several-fold increases particularly in complex genomic regions compared to standard callers.
• Region-by-Region Analysis: Operates on a region-by-region basis and tiles across large genomes to provide modular, comprehensive coverage of genomic segments.
• Integration with Improved Sequencing Data: Leverages low-cost sequencing data and a reference set derived from the finished sequence of 103 randomly chosen fosmids to improve accuracy.
• Transition to VCF: Moving output generation toward Variant Call Format (VCF) for compatibility with downstream variant analysis workflows.

Scientific Applications:

• Human genetic variation discovery: Detects variants across the entire human genome, including regions previously difficult to analyze.
• Disease genetics and etiology: Enables more complete catalogs of genomic variation to support studies of genetic contributions to disease.
• Personalized medicine: Provides more accurate variant calls in challenging regions to inform individual genomic analyses and clinical interpretation.

Methodology:

Implements a novel variant-calling algorithm that was created and tested against a reference set derived from the finished sequence of 103 randomly chosen fosmids, using region-by-region tiling across the genome and comparative evaluation against existing methods to identify previously missed variants.