Pathogenicity Calculator
OVERVIEW
CALCULATOR.CLINICALGENOME.ORG TRAFFIC
Date Range
Date Range
Date Range
LINKS TO DOMAIN
Working Groups and Expert Panels. Working Groups and Expert Panels. Copy Number Variant Interpretation Guidelines. Sequence Variant Inter-Laboratory Discrepancy Resolution. Inborn Errors of Metabolism CDWG.
What is the Allele Registry? To facilitate wide integration of the registry services with existing software and workflows for variant evaluation, e. All the functionalities of the registry are exposed via REST APIs. The API allows also for bulk query and registration of variants. Hundreds of variants saved as a VCF file or a list .
WHAT DOES CALCULATOR.CLINICALGENOME.ORG LOOK LIKE?
CALCULATOR.CLINICALGENOME.ORG SERVER
BROWSER ICON
SERVER OS
We observed that calculator.clinicalgenome.org is using the nginx/1.10.2 os.HTML TITLE
Pathogenicity CalculatorDESCRIPTION
What is the ClinGen Pathogenicity Calculator? The shift from genetic testing of individual genes to exome and genome sequencing has been accompanied by new challenges in genome interpretation. The American College of Medical Genetics and Genomics and the Association for Molecular Pathology ACMGAMP have published Standards and Guidelines for the Interpretation of Sequence Variants. Using the current Calculator interface one may 1 identify an allele within the ClinGen Allele Registry. Description of A.PARSED CONTENT
The domain states the following, "What is the ClinGen Pathogenicity Calculator? The shift from genetic testing of individual genes to exome and genome sequencing has been accompanied by new challenges in genome interpretation." We analyzed that the web site also stated " The American College of Medical Genetics and Genomics and the Association for Molecular Pathology ACMGAMP have published Standards and Guidelines for the Interpretation of Sequence Variants." It also stated " Using the current Calculator interface one may 1 identify an allele within the ClinGen Allele Registry."SEEK OTHER BUSINESSES
Is an NIH-funded resource centered on clinically-relevant genomic alleles. Sharing of clinically-relevant genomic data. Expert curation, creating knowledge from genomic data. Machine learning on genomic data to discover new clinical relevance. The ClinGen Data Model Working Group. Provide a common and consistent set of definitions around the core concepts, attributes and terminology throughout the ClinGen domain.
Forgot Password or Username? Deviant for 8 Years. This is the place where you can personalize your profile! We do n.
Welcome to the Psychology-Law Evidence Database. What is the Database and Why Use It? This site is intended to reflect a comprehensive, continuously updated, freely available database of top qu.