{"id":"W4378745066","doi":"10.1007/s10689-023-00336-1","title":"Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis","year":2023,"lang":"en","type":"article","venue":"Familial Cancer","topic":"Congenital Diaphragmatic Hernia Studies","field":"Medicine","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Children's Hospital of Eastern Ontario; McGill University; Jewish General Hospital","funders":"Canadian Institutes of Health Research; Universidad Pública de Navarra; “la Caixa” Foundation","keywords":"Germline; Germline mutation; Biology; RNA splicing; Thyroid; Germline mosaicism; Genetics; Mutation; Gene; RNA","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002935553,0.0007098943,0.000481122,0.001413851,0.0004863397,0.0004442472,0.0003835362,0.001463393,0.002909554],"category_scores_gemma":[0.00264582,0.0002450141,0.0003645518,0.0003739817,0.0005734644,0.0002794901,0.0005939829,0.0008674766,0.0005050621],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003387866,"about_ca_system_score_gemma":0.0002609543,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001146689,"about_ca_topic_score_gemma":0.0008428286,"domain_scores_codex":[0.9994874,0.00005476863,0.00006323581,0.0001702772,0.0001009484,0.0001233073],"domain_scores_gemma":[0.9990528,0.0003579277,0.0001878564,0.0000345461,0.00007872691,0.000288118],"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":[0.0001724392,0.0001041431,0.2595756,0.00006253051,0.00002597257,0.6959192,0.001383596,0.0002054332,0.03039411,0.0004241795,0.0006760619,0.0110568],"study_design_scores_gemma":[0.00002597182,0.0003774068,0.1037667,0.00003270225,0.00003149672,0.8832363,0.0002941306,0.0008158945,0.0094634,0.0002262111,0.001705768,0.00002408497],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997324,0.0004084411,0.0008712753,0.000220041,0.00004398961,0.00002576693,0.0001115835,0.00004512863,0.0009496897],"genre_scores_gemma":[0.99786,0.0002026953,0.0009983392,0.0001527428,0.00004639585,0.0000107676,0.0001427921,0.00001467498,0.0005715422],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002909554,"threshold_uncertainty_score":0.009733379,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05301910653914172,"score_gpt":0.3579391639882546,"score_spread":0.3049200574491129,"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."}}