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Sophia Rare Disease Software
5 software items found
by:SOPHiA Genetics based inBoston, MASSACHUSETTS (USA)
Next-generation sequencing (NGS) of the human exome has the potential to identify pathogenic variants responsible for complex phenotypes associated with rare ...
by:SOPHiA Genetics based inBoston, MASSACHUSETTS (USA)
Next-generation sequencing (NGS) has the potential to revolutionize the diagnosis and treatment of cancers and rare diseases but creates extremely large, complex, and noisy datasets for analysis. Without the right analytical technology, pinpointing causative variants and obtaining actionable insights from NGS data requires specialist skills, multiple ...
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 ...
by:SOPHiA Genetics based inBoston, MASSACHUSETTS (USA)
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. ...