{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","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. 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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"},"siblings":[{"id":"https://openalex.org/T10012","display_name":"Genetic diversity and population structure"},{"id":"https://openalex.org/T10120","display_name":"Bacterial Genetics and Biotechnology"},{"id":"https://openalex.org/T10134","display_name":"Inflammatory Bowel Disease"},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology"},{"id":"https://openalex.org/T10594","display_name":"Genetic and phenotypic traits in livestock"},{"id":"https://openalex.org/T10613","display_name":"Virus-based gene therapy research"},{"id":"https://openalex.org/T10702","display_name":"Insect and Arachnid Ecology and Behavior"},{"id":"https://openalex.org/T10751","display_name":"Forensic and Genetic Research"},{"id":"https://openalex.org/T10756","display_name":"Estrogen and related hormone effects"},{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer"},{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities"},{"id":"https://openalex.org/T11171","display_name":"Diabetes and associated disorders"},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities"},{"id":"https://openalex.org/T11214","display_name":"Human-Animal Interaction Studies"},{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research"},{"id":"https://openalex.org/T11353","display_name":"Venomous Animal Envenomation and Studies"},{"id":"https://openalex.org/T11374","display_name":"Cleft Lip and Palate Research"},{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases"},{"id":"https://openalex.org/T11468","display_name":"Genetic Mapping and Diversity in Plants and Animals"},{"id":"https://openalex.org/T11679","display_name":"Craniofacial Disorders and Treatments"},{"id":"https://openalex.org/T11764","display_name":"Evolution and Genetic Dynamics"},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders"},{"id":"https://openalex.org/T11928","display_name":"Genetic Syndromes and Imprinting"},{"id":"https://openalex.org/T11968","display_name":"High Altitude and Hypoxia"},{"id":"https://openalex.org/T11974","display_name":"Lepidoptera: Biology and Taxonomy"},{"id":"https://openalex.org/T12232","display_name":"Yersinia bacterium, plague, ectoparasites research"},{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases."},{"id":"https://openalex.org/T12370","display_name":"Advances in Cucurbitaceae Research"},{"id":"https://openalex.org/T12447","display_name":"Spider Taxonomy and Behavior Studies"},{"id":"https://openalex.org/T12749","display_name":"Race, Genetics, and Society"},{"id":"https://openalex.org/T12919","display_name":"Blood disorders and treatments"},{"id":"https://openalex.org/T12924","display_name":"Dermatological and Skeletal Disorders"},{"id":"https://openalex.org/T12929","display_name":"Animal Genetics and Reproduction"},{"id":"https://openalex.org/T12989","display_name":"Ocular Disorders and Treatments"},{"id":"https://openalex.org/T13199","display_name":"Digestive system and related health"},{"id":"https://openalex.org/T13354","display_name":"Genetics and Physical Performance"},{"id":"https://openalex.org/T13664","display_name":"Genome Rearrangement Algorithms"},{"id":"https://openalex.org/T13984","display_name":"Nutrition, Genetics, and Disease"},{"id":"https://openalex.org/T14333","display_name":"Dermatoglyphics and Human Traits"}],"works_count":70763,"cited_by_count":928136,"works_api_url":"https://api.openalex.org/works?filter=topics.id:T11642","updated_date":"2026-10-18T03:01:31","created_date":"2024-01-23T15:27:11"}