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