SOPHiA Genetics software

Cardiac diseases are the #1 cause of death globally1,2. Genetic testing is frequently considered a key component of the clinical management process of inherited cardiac disorders, such as hypertrophic, dilated, and arrhythmogenic cardiomyopathies, aortopathies, and inherited arrhythmia syndromes3. This approach is typically reserved for patients with a confirmed or suspected diagnosis of an inherited cardiac disease or individuals at high risk due to a previously identified pathogenic variant in their family.

Most rare and inherited diseases have a neurological component, likely because more than 80% of human genes are expressed in the brain.¹ Neurological disorders are multifactorial and heterogeneous, meaning that their genetic basis is often poorly understood. Indeed, only 30-50% of neurological disorders have a molecular genetic diagnosis.²

Next-generation sequencing (NGS) of the human exome has the potential to identify pathogenic variants responsible for complex phenotypes associated with rare diseases.

Metabolic disorders are a major cause of morbidity and mortality, representing a growing health concern worldwide. Over the last decade, substantial progress has been made in the discovery of genetic variants influencing a range of metabolic diseases.¹ The advances in next generation sequencing (NGS) technologies have contributed to elucidation of the pathogenic role of variants associated with metabolic phenotypes, leading to a significant improvement in the throughput and diagnostic rate. For robust and accurate annotation of variant and gene function, novel algorithms and inferential frameworks are continuously emerging to advance the research and better inform healthcare professionals.