GenIO

GenIO integrates genomic and clinical data to identify and prioritize candidate variants for diagnosis of rare genetic diseases.

Key Features:

• Variant Identification: Processes whole-genome, whole-exome, and targeted sequencing data to annotate, classify, and filter variants based on clinical significance.
• Candidate Gene Analysis: Identifies candidate genes associated with the patient's symptoms, suspected disease, and complementary findings, prioritizing probable recessive and dominant variants.
• Guideline Adherence: Applies the American College of Medical Genetics and Genomics and the Association of Molecular Pathology (ACMG-AMP) guidelines to classify pathogenicity and report secondary findings.
• Retrospective Study Validation: In a retrospective study of 40 patients achieved a diagnostic rate of 40% and recovered all previously reported disease-causing genes in the final inheritance-model output lists.

Scientific Applications:

• Clinical genomics diagnostics: Integrates genomic and clinical information to support identification of potential genetic causes in rare or undiagnosed conditions.
• Confirmation of reported genes: Validates known disease-causing genes within inheritance-model output lists.
• Assessment of diagnostic yield: Enables evaluation of diagnostic rates in retrospective cohorts and documents cases where additional diagnoses were not obtained.

Methodology:

Data input of genomic variants and clinical information; annotation and classification of variants according to established guidelines; filtering and prioritization by clinical significance; generation of concise candidate gene variant lists.