{"id":"W2969889518","doi":"10.1002/humu.23896","title":"Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data","year":2019,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":47,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Cancer Research","funders":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek; ZonMw","keywords":"Consistency (knowledge bases); Biology; Penetrance; Data sharing; External quality assessment; Computational biology; Genetics; Computer science; Bioinformatics; Artificial intelligence; Medicine; Gene; Pathology; Phenotype","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009425204,0.00009593284,0.00008055316,0.00002358112,0.00008150841,0.0001243227,0.0001139675,0.00005651755,0.0000151961],"category_scores_gemma":[0.0001966041,0.00009561276,0.000008278884,0.00003939517,0.00002568397,0.00002488495,0.0001596143,0.00003549935,0.000002549737],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006818681,"about_ca_system_score_gemma":0.00003016777,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001027487,"about_ca_topic_score_gemma":0.0000293775,"domain_scores_codex":[0.9993619,0.00002477304,0.0001326216,0.0003423606,0.00004210261,0.00009620642],"domain_scores_gemma":[0.9995151,0.00002918803,0.0000773637,0.0002562924,0.00006940715,0.00005266552],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00005968505,0.00003251154,0.00603154,0.0000535239,0.00004704186,0.000004270118,0.0004035035,0.000009849363,0.9922012,0.00006899217,0.000104517,0.0009833763],"study_design_scores_gemma":[0.008940626,0.001670208,0.8444855,0.0001786463,0.0005846868,0.0001065433,0.004684795,0.02725145,0.1023559,0.001892543,0.005663438,0.002185656],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979424,0.001182789,0.0002538986,0.00002023306,0.00004175494,0.0002298826,0.0002751341,0.000009842403,0.00004399109],"genre_scores_gemma":[0.9918386,0.000124593,0.00007607827,0.0001181044,0.00004458819,0.000009678934,0.007738793,0.00001444067,0.00003509912],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8898453,"threshold_uncertainty_score":0.3898975,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01185039697196038,"score_gpt":0.2658951915607008,"score_spread":0.2540447945887405,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}