Mitochondrial Research Software For Clinical Medicine
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based in USA
GeneMarker®HTS software provides a validated streamlined workflow for forensic mitochondrial , STR, and Y-STR casework as well as medical research of mitochondrial DNA from massively parallel squencing platforms (MPS) - such as the Illumina® and Ion Torrent® - in an easy-to-use Windows® operating system. ...
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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
NextGENeLR Software is an effective and easy-to-use resource for the analysis of long read sequencing data such as data from Pacific Biosciences RS, RSII, Sequel, and Sequel II systems, as well as Oxford Nanopore MinION. NextGENeLR can be used for structural variation detection, STR expansion analysis, and whole genome mitochondrial DNA analysis, including low frequency SNV and indel detection, ...
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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
Mutation Surveyor software includes patented anti-correlation technology, which physically compares sample sequence traces to a reference trace, providing accuracy up to 99.5% with Phred 20 bi-directional sequences and a sensitivity of 5% of the primary ...
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