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Sophia Next Generation Nanopore Sequencing Software Available In In United Kingdom
6 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 resources, and considerable time. The ...
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)
Hematological tumors represent the fourth most frequent cancer type in the developed world. In addition to the continuously evolving clinical guidelines2, harnessing of all the available information when investigating hematological disorders into meaningful insights can be outdated, inaccurate, costly, and time-consuming. This ultimately risks limiting researchers’ productivity, thus ...
by:SOPHiA Genetics based inBoston, MASSACHUSETTS (USA)
Hereditary causes account for ∼10% of cancer cases, and an estimated 20% of cancer patients have a family history of cancer. Identification of an individual with a suspected hereditable cancer can lead to additional examinations and help formulate the most appropriate prevention strategies. Evaluating the predisposition to develop inherited cancer depends on the ability to characterize genes ...
by:SOPHiA Genetics based inBoston, MASSACHUSETTS (USA)
Genomic profiling is driving precision oncology. From targeted to comprehensive solutions, Next-Generation-Sequencing (NGS) offers the capacity to simultaneously analyze a select set of genes, regions, and biomarkers based on known involvement across solid tumor such as lung, colon, breast, melanoma, gastric, and ovarian cancers. However, as tests either expand or become more specialized, ...