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Mitochondrial Genome Software
3 software items found
by:SoftGenetics, LLC. based inState College, PENNSYLVANIA (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 ...
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)
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 ...