{"id":"W3091828407","doi":"10.1097/mcd.0000000000000351","title":"Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly","year":2020,"lang":"en","type":"article","venue":"Clinical Dysmorphology","topic":"Craniofacial Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; Manitoba Health","funders":"","keywords":"Medicine; Trigonocephaly; Genetics; Craniosynostosis; Surgery","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.00008295367,0.0006714227,0.0003593137,0.0005610379,0.0004543177,0.0002725896,0.0001776587,0.0004005769,0.002229898],"category_scores_gemma":[0.001083371,0.000199006,0.0001743137,0.0002910455,0.0005039123,0.0001355215,0.0002588918,0.0002822659,0.0002553928],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002172316,"about_ca_system_score_gemma":0.0002616534,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001091294,"about_ca_topic_score_gemma":0.001535033,"domain_scores_codex":[0.9998556,0.00001453161,0.00001209101,0.00004892291,0.00003198346,0.00003696468],"domain_scores_gemma":[0.9996709,0.0000968418,0.0001123243,0.00001933453,0.00001507924,0.00008546528],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001676842,0.0002873795,0.3969783,0.0001561157,0.000127374,0.2576755,0.001083323,0.0004391055,0.2940927,0.0007502844,0.001371431,0.04536168],"study_design_scores_gemma":[0.0000977382,0.001031152,0.5630282,0.00004433624,0.0001629846,0.4052223,0.000386873,0.0004371754,0.02580824,0.0002438838,0.003506166,0.00003086411],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982452,0.0003297699,0.0002101776,0.00005433776,0.00000821168,0.000005090391,0.00007595015,0.00002003226,0.001051286],"genre_scores_gemma":[0.9992698,0.0001137998,0.0001668418,0.00003504649,0.000009432663,0.000003329139,0.00009038692,0.000006359099,0.0003050655],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002229898,"threshold_uncertainty_score":0.00745976,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05210759187669222,"score_gpt":0.3076689614247761,"score_spread":0.2555613695480838,"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."}}