{"id":"W2778097514","doi":"10.1016/j.ejmg.2017.12.011","title":"Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia","year":2017,"lang":"en","type":"article","venue":"European Journal of Medical Genetics","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":16,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"Wallonie-Bruxelles International; Baylor College of Medicine","keywords":"Holoprosencephaly; Microcephaly; Prenatal diagnosis; Medicine; Imperforate anus; Genetics; Dysplasia; Phenotype; Pediatrics; Pregnancy; Pathology; Biology; Fetus; Anatomy","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":[0.002410396,0.0001553543,0.0003310157,0.0000662841,0.0002282003,0.0001330964,0.0004005624,0.00008112935,0.00003736336],"category_scores_gemma":[0.00527736,0.0001021266,0.00005211363,0.0000651027,0.0004003308,0.00006864126,0.0002914559,0.0008121703,0.000005917565],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002728068,"about_ca_system_score_gemma":0.0001009147,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001552033,"about_ca_topic_score_gemma":0.00001757388,"domain_scores_codex":[0.9981193,0.0002387157,0.0004864137,0.0001737318,0.0007006498,0.0002812102],"domain_scores_gemma":[0.9985708,0.0003095876,0.0003250919,0.0002525519,0.00008771547,0.0004542748],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001225332,0.00008425402,0.8848453,0.0000557915,0.00006544128,0.004461423,0.00123803,0.00001215337,0.0006189982,0.00003187468,0.001454099,0.1070102],"study_design_scores_gemma":[0.004250583,0.0004177087,0.9910852,0.001102605,0.0000903706,0.0006605817,0.0002294454,0.0003524028,0.000169648,0.0001015433,0.001409844,0.0001300475],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992303,0.001575342,0.0001990132,0.003929251,0.0002870146,0.00009612321,0.000005600638,0.0000103296,0.001594287],"genre_scores_gemma":[0.9947619,0.003570284,0.0005487507,0.0005605412,0.0004211296,3.244944e-7,0.000002181852,0.00002506863,0.0001097593],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1068801,"threshold_uncertainty_score":0.6317874,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02424588349549567,"score_gpt":0.304529902937234,"score_spread":0.2802840194417384,"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."}}