{"id":"W2810724223","doi":"10.1038/s41431-018-0185-4","title":"Primary brain calcification: an international study reporting novel variants and associated phenotypes","year":2018,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Medical Imaging and Pathology Studies","field":"Medicine","cited_by":73,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"National Institute of Neurological Disorders and Stroke; National Heart, Lung, and Blood Institute; European Commission; European Regional Development Fund; Région Normandie; Fundação de Amparo à Ciência e Tecnologia do Estado de Pernambuco; Conselho Nacional de Desenvolvimento Científico e Tecnológico; Institut National de la Santé et de la Recherche Médicale; Agence Nationale de la Recherche; Coordenação de Aperfeiçoamento de Pessoal de Nível Superior; National Institutes of Health; Cancer Research UK","keywords":"PDGFRB; PDGFB; Proband; Medicine; Genetic counseling; Genetic testing; Genetics; Bioinformatics; Internal medicine; Pediatrics; Biology; Gene; Mutation","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":[0.00257823,0.00008496684,0.0002205592,0.00007996317,0.0001429401,0.00002679467,0.0001191861,0.00001601829,0.0000357447],"category_scores_gemma":[0.00124135,0.00006810125,0.00002742866,0.00005030111,0.0001905745,0.0000458029,0.00006370603,0.0002140239,0.000004998027],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002108647,"about_ca_system_score_gemma":0.00003562909,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001019806,"about_ca_topic_score_gemma":0.000002073988,"domain_scores_codex":[0.9984767,0.0002191176,0.0007866842,0.0001402358,0.0002693976,0.0001077973],"domain_scores_gemma":[0.9983613,0.00004031238,0.000919187,0.0001516479,0.0004071372,0.0001204111],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001254717,0.001715078,0.8719608,0.00002007329,0.0006588277,0.001761564,0.01268575,0.000002137037,0.07937144,0.0000322495,0.005048485,0.02661818],"study_design_scores_gemma":[0.001513441,0.001965108,0.993866,0.00006221064,0.0001131875,0.0005063477,0.0005468961,0.0000440759,0.00009439575,0.00001552769,0.001207778,0.00006501262],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9901847,0.000161408,0.0007484691,0.000762451,0.0003374566,0.00007021178,0.00000191984,0.00001419576,0.007719147],"genre_scores_gemma":[0.99471,0.00001972448,0.002998607,0.0007785482,0.001040182,2.034374e-7,0.000007020095,0.00001782973,0.000427932],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1219053,"threshold_uncertainty_score":0.2777088,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1039982944658891,"score_gpt":0.37062158590886,"score_spread":0.266623291442971,"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."}}