SoftPanel

SoftPanel generates customized gene panels for targeted next-generation sequencing (NGS) to identify and prioritize candidate disease genes.

Key Features:

• Customizable Gene Panels: Accepts a single disorder or a group of related disorders as input to produce a list of genes predicted to underlie the condition(s).
• Multiple Retrieval Methods: Compiles disorder groups using keyword searches, an arborized list of International Classification of Diseases (ICD-10) codes, or phenotypic similarity analysis.
• Gene List Expansion and Refinement: Integrates multiple biological data resources to expand and refine candidate gene lists.
• Hard and Soft Panel Generation: Produces "hard" panels as exact gene lists for targeted sequencing and "soft" panels to filter significantly altered gene sets from whole genome or exome sequencing for candidate prioritization.
• Improved Sensitivity and Specificity: Focuses sequencing on high-priority genes to increase sensitivity and specificity relative to broader genome or exome approaches.

Scientific Applications:

• Genomics Research: Enables creation of disorder- or phenotype-specific targeted panels to support identification of potential disease genes.
• Personalized Medicine: Facilitates generation of customized panels to inform diagnostic and therapeutic decision-making based on individual genetic profiles.

Methodology:

Compiles gene lists via keyword searches, ICD-10 code browsing, and phenotypic similarity analysis, and integrates multiple biological data resources to expand or refine those lists.