Rare Disease Software
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based in USA
Next-generation sequencing (NGS) of the human exome has the potential to identify pathogenic variants responsible for complex phenotypes associated with rare ...
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based in 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 ...
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based in 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 ...
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based in 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 ...
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based in 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 ...
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Manufactured by Intelligencebased in GERMANY
Identify the biomarkers best suited for your needs: Diagnose rare or ambiguous diseases, Group patients by endotype response for prognosis, Assess disease etiology to determine responsive patient group ...
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based in USA
NextGENe software is the perfect analytical partner for the analysis of desktop sequencing data produced by Illumina® iSeq, Miniseq, MiSeq, NextSeq, HiSeq, and NovaSeq systems, Ion Torrent Ion GeneStudio S5, PGM, and Proton systems as well as other platforms. NextGENe software runs on a Windows® Operating System, which provides a biologist-friendly ‘point & click’ ...
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based in RUSSIA
BRING-YOUR-OWN-DEVICE (BYOD) & NON-BYOD; Data can be entered both on a sponsor owned device as well as on a patient’s personal mobile ...
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based in USA
The representation of the human reference genome as a linear haploid DNA sequence poses limitations when trying to incorporate the known genetic diversity of human populations. This has led to the development of graph-based references, able to naturally represent all polymorphisms, including insertions, deletions, and structural ...
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Manufactured by CENTOGENE N.V.based in GERMANY
proprietary Biodatabank and external reference databases. It allows for the identification, prioritization, and classification of human genetic variants associated with genetic diseases/inherited ...
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