NMPhenoscore

We have built NMPhenoscore to aggregate symptoms of neuromuscular genetic disorders to help clinicians, researchers, genome analysts, genetic counsellors and other users to prioritize genes and syndromes for the symptoms and assist in genotype-phenotype correlation. To understand the aetiology of the disorder, nature of progression, employ targeted therapy if any and aid in prevention in subsequent pregnancies by prenatal diagnosis and extended family screening.

• Advanced phenotype scoring algorithms
• Statistical analysis and visualization
• Batch processing capabilities
• Export and reporting functions