Symptom-Guided Genomic Analysis in a Complex Autoimmune Case: Integrating Whole Genome Sequencing and Phenotype Mapping

Key Points

• To investigate the genomic factors associated with multiple autoimmune and cardiovascular disorders in a female patient.
• Performed whole genome sequencing on the patient
• Conducted phenotype mapping to link symptoms with genomic data
• Analyzed genetic variations related to autoimmune and cardiovascular conditions.
• Identified specific genomic variations linked to TTP, SLE, and LVNC
• Demonstrated the complexity of diagnosing co-occurring rare disorders
• Highlighted the potential for targeted interventions based on genomic findings.