All Downloads are FREE. Search and download functionalities are using the official Maven repository.

org.opencb.biodata.models.variant.avro.ClinicalSignificance Maven / Gradle / Ivy

The newest version!
/**
 * Autogenerated by Avro
 * 
 * DO NOT EDIT DIRECTLY
 */
package org.opencb.biodata.models.variant.avro;  
@SuppressWarnings("all")
/** Mendelian variants classification with ACMG terminology as defined in Richards, S. et al. (2015). Standards and
        guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College
        of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine, 17(5),
        405–423. https://doi.org/10.1038/gim.2015.30.

    Classification for pharmacogenomic variants, variants associated to
    disease and somatic variants based on the ACMG recommendations and ClinVar classification
    (https://www.ncbi.nlm.nih.gov/clinvar/docs/clinsig/).

* `benign_variant` : Benign variants interpreted for Mendelian disorders
* `likely_benign_variant` : Likely benign variants interpreted for Mendelian disorders with a certainty of at least 90%
* `pathogenic_variant` : Pathogenic variants interpreted for Mendelian disorders
* `likely_pathogenic_variant` : Likely pathogenic variants interpreted for Mendelian disorders with a certainty of at
least 90%
* `uncertain_significance` : Uncertain significance variants interpreted for Mendelian disorders. Variants with
conflicting evidences should be classified as uncertain_significance */
@org.apache.avro.specific.AvroGenerated
public enum ClinicalSignificance { 
  benign, likely_benign, VUS, likely_pathogenic, pathogenic, uncertain_significance  ;
  public static final org.apache.avro.Schema SCHEMA$ = new org.apache.avro.Schema.Parser().parse("{\"type\":\"enum\",\"name\":\"ClinicalSignificance\",\"namespace\":\"org.opencb.biodata.models.variant.avro\",\"doc\":\"Mendelian variants classification with ACMG terminology as defined in Richards, S. et al. (2015). Standards and\\n        guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College\\n        of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine, 17(5),\\n        405–423. https://doi.org/10.1038/gim.2015.30.\\n\\n    Classification for pharmacogenomic variants, variants associated to\\n    disease and somatic variants based on the ACMG recommendations and ClinVar classification\\n    (https://www.ncbi.nlm.nih.gov/clinvar/docs/clinsig/).\\n\\n* `benign_variant` : Benign variants interpreted for Mendelian disorders\\n* `likely_benign_variant` : Likely benign variants interpreted for Mendelian disorders with a certainty of at least 90%\\n* `pathogenic_variant` : Pathogenic variants interpreted for Mendelian disorders\\n* `likely_pathogenic_variant` : Likely pathogenic variants interpreted for Mendelian disorders with a certainty of at\\nleast 90%\\n* `uncertain_significance` : Uncertain significance variants interpreted for Mendelian disorders. Variants with\\nconflicting evidences should be classified as uncertain_significance\",\"symbols\":[\"benign\",\"likely_benign\",\"VUS\",\"likely_pathogenic\",\"pathogenic\",\"uncertain_significance\"]}");
  public static org.apache.avro.Schema getClassSchema() { return SCHEMA$; }
}




© 2015 - 2024 Weber Informatics LLC | Privacy Policy