{"id":"W3103131700","doi":"10.1136/jmedgenet-2020-107385","title":"A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1","year":2020,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Congenital Diaphragmatic Hernia Studies","field":"Medicine","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"Bertil Hållstens Forskningsstiftelse; Barncancerfonden; Vetenskapsrådet; Radiumhemmets Forskningsfonder; Cancerfonden","keywords":"Genetics; Biology; Germline; Germline mutation; Missense mutation; Sanger sequencing; Phenotype; Exome sequencing; Mutation; Cancer research; Gene","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001438953,0.001678485,0.0004874743,0.00109044,0.0005151998,0.0003063318,0.0004474765,0.001046755,0.003889982],"category_scores_gemma":[0.0007123862,0.0002980369,0.0003308882,0.0006727157,0.0008427523,0.00024136,0.0008126163,0.0004944215,0.000510552],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002763631,"about_ca_system_score_gemma":0.000301403,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001043912,"about_ca_topic_score_gemma":0.00115635,"domain_scores_codex":[0.9997838,0.00001731529,0.00002022867,0.00009122313,0.00005056789,0.00003691767],"domain_scores_gemma":[0.9994536,0.0001420174,0.000192311,0.00002998506,0.00002839028,0.0001537125],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0002794606,0.00006213941,0.02995907,0.0001778735,0.00008070809,0.7868872,0.0005658875,0.000458097,0.1714626,0.0008468115,0.00103363,0.008186496],"study_design_scores_gemma":[0.0000486999,0.0002374389,0.04699453,0.00002279192,0.00006871561,0.9302917,0.00008964905,0.0007289025,0.01824375,0.0003676743,0.002876228,0.00002999364],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99466,0.0004615438,0.001440027,0.0001826971,0.00002900151,0.00005485923,0.0004338632,0.0001215011,0.002616423],"genre_scores_gemma":[0.9968188,0.0001769908,0.001279329,0.00007166058,0.0000317192,0.00001520155,0.0002180843,0.0000290812,0.001359193],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003889982,"threshold_uncertainty_score":0.01301324,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03409117076274251,"score_gpt":0.2822893295793062,"score_spread":0.2481981588165637,"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."}}