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Sophia Phenotyping Software In Usa
3 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)
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. ...
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. Indeed, only 30-50% of neurological disorders have a molecular genetic diagnosis.2 ...