Unified Management
Unified Management of Clinical Information and NGS Results
Variant pathogenicity should be interpreted by gathering evidence from various sources, such as the position and type of variant, the results of family segregation analysis, patients phenotypes, the survey results of many kinds of database including control population as well as disease-specific databases, the results of in vitro experiments, and the results of in silico prediction programs. However, this variant classification approach requires considerable time and effort to assess all the updated information from many data sources as well as in-house variant information.
Clinical Next-Generation Sequencing Database (Clinical NGS DB), which can be utilized for efficient clinical next-generation sequencing analysis of inherited diseases through the collection of data for a large number of variants as well as clinical information, allele frequencies in control population, variant classification information in disease-specific databases, in silico prediction scores in a unified database.
Case Viewer
The “Case Viewer” is an interface allowing efficient clinical sequencing for the diagnosis of each patient. This interface allows the user to access all the patient clinical information including Sample ID, Project Name, Pedigree, and variant information after automatic filtering including “Protein affecting variants,” “Low minor allele frequency or absent among control population,” “Previously reported pathogenic variants,” and so on. This interface is also useful for managing “Direct sequence conformation results,” “Family segregation results” and “Diagnosis”.
Variant Viewer
The “Variant Viewer” is an interface allowing the efficient assessment of pathogenicity for each variant. In this interface, you can browse the whole variant information such as the patient IDs of those carrying the same variant and annotation information including computer prediction score and minor allele frequency (MAF) information from the 1000 Genomes Project, EVS6500, ExAC, ClinVar and other databases. This interface also provides averaged clinical information and the standard deviation of the patients carrying the same variant for the easy comparison of patient phenotypes.
The “Case Viewer” is an interface allowing efficient clinical sequencing for the diagnosis of each patient. This interface allows the user to access all the patient clinical information including Sample ID, Project Name, Pedigree, and variant information after automatic filtering including “Protein affecting variants,” “Low minor allele frequency or absent among control population,” “Previously reported pathogenic variants,” and so on. This interface is also useful for managing “Direct sequence conformation results,” “Family segregation results” and “Diagnosis”.