DISCOVAR de novo

DISCOVAR de novo assembles genomes de novo and enables sensitive detection of genetic variants in low-complexity sequences and segmental duplications to improve characterization of genetic variation.

Key Features:

• Enhanced Variant Sensitivity: Improves sensitivity of variant detection in approximately 10% of the human genome comprising low-complexity sequences and segmental duplications.
• Algorithmic Innovation: Implements a novel algorithm optimized for improved, cost-effective sequencing data to detect variants missed by standard methods (up to 25% in challenging regions).
• Comprehensive Reference Utilization: Uses a reference set derived from the finished sequences of 103 randomly chosen fosmids for evaluation and improvement of variant calling accuracy.

Scientific Applications:

• Disease Variant Discovery: Enables more accurate identification of genetic variants relevant to disease etiology by improving detection in previously inaccessible regions.
• Complex-Region Genomics: Facilitates analysis of low-complexity regions and segmental duplications that are traditionally difficult to analyze.

Methodology:

Applies a novel assembly algorithm to improved, cost-effective sequencing data and integrates a reference set of 103 finished fosmid sequences for variant calling evaluation.