Item talk:Q168961
From geokb
{
"OpenAlex": { "display_name": "Standards and Guidelines for Genetic Variant Interpretation", "description": "This cluster of papers focuses on the standards, guidelines, and tools for interpreting genetic variants, particularly in the context of clinical genomics and Mendelian disorders. It includes topics such as pathogenicity prediction, functional annotations, sequence interpretation, and the use of exome sequencing for identifying disease-causing variants.", "keywords": [ "Genetic Variants", "Sequence Interpretation", "Clinical Genomics", "Pathogenicity Prediction", "Exome Sequencing", "Mendelian Disorders", "Functional Annotations", "Variant Databases", "Phenotype Analysis", "ACMG Guidelines" ], "ids": { "openalex": "https://openalex.org/T11642", "wikipedia": "https://en.wikipedia.org/wiki/Genetic_variant_interpretation" }, "subfield": { "id": "https://openalex.org/subfields/1311", "display_name": "Genetics" }, "field": { "id": "https://openalex.org/fields/13", "display_name": "Biochemistry, Genetics and Molecular Biology" }, "domain": { "id": "https://openalex.org/domains/1", "display_name": "Life Sciences" }, "updated_date": "2024-08-12T06:10:35.257010", "created_date": "2024-01-23", "type": "topic", "oa_id": "T11642", "id": "https://openalex.org/T11642" }
}