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by:SOPHiA Genetics based inBoston, MASSACHUSETTS (USA)
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 ...
by:SOPHiA Genetics based inBoston, MASSACHUSETTS (USA)
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 ...