SOPHiA DDM - Version DDM - Cloud-Based Software Platform for Neurological Disorders
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
Genetics are heavily involved in the pathogenesis of hereditary neurological disorders such as neuropathies and ataxias, and in the pathogenesis of some more common and complex neurological, neurodevelopmental, neuromuscular, and neurodegenerative disorders such as migraine, autism, multiple sclerosis, Alzheimer’s disease, and epilepsy.1 Both targeted NGS panels and exome sequencing play a role in discovering the genetic basis of these disorders. Exome sequencing may be the only tool able to establish a molecular diagnosis for patients with non-specific phenotypes, whereas targeted panels are a potentially quicker and cheaper option for disorders with better-defined phenotypes.
Quickly and accurately detect variants causing neurological disorders by leveraging on the advanced analytical capabilities and dedicated features of the SOPHiA DDM Platform complemented by Alamut™ Visual Plus. Streamline your data-driven research decision-making from exome and targeted NGS panels today.
Copy number variations (CNVs) are a genetic risk factor for many neurological disorders.3 The SOPHiA DDM Platform filters noisy NGS datasets to support the accurate detection of CNVs at exon-level resolution. Coverage levels of target regions are evaluated across multiple samples in the same sequencing run, enabling accurate CNV calling alongside SNV and Indel calling in a single experiment, facilitating a fast and cost-effective workflow.
NGS sequencing for neurological disorders can detect up to tens of thousands of variants. Determining which of these are associated with the disease phenotype can be a daunting task. To support your variant exploration, the SOPHiA DDM Platform predicts variant pathogenicity based on ACMG scores and patented machine-learning algorithms. In combination with Alamut™ Visual Plus, the platform annotates variants with information from more than 55 world-renowned biological databases and repositories, and then continues to accelerate your analysis with dedicated filtering features to refine your results to a manageable number of variants.
When you are ready to focus on your variants of interest, Alamut™ Visual Plus allows you to join the dots by exploring them on a genomic scale in a comprehensive, full genome browser supported by world-renowned curated databases, guidelines, and splicing predictors. The intuitive and user-friendly interface allows visualization of GRCh37/38 or the mitochondrial genome, and conveniently displays close-by regions and overlapping genes.