{"id":"W2906394810","doi":"10.1002/ajmg.c.31661","title":"Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research","year":2018,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; Alberta Children's Hospital; University of Calgary","funders":"Genome British Columbia; Canadian Institutes of Health Research; Genome Canada; Children's Hospital of Eastern Ontario Foundation; Ontario Genomics; Ontario Genomics Institute; Genome Alberta; National Organization for Rare Disorders","keywords":"Microcephaly; Genetic heterogeneity; Genetics; Biology; Genetic testing; Exome sequencing; Bioinformatics; Medicine; Pediatrics; Phenotype; Gene","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":[0.008853303,0.0008359919,0.003027148,0.00276158,0.0008518934,0.0025898,0.002802575,0.002561736,0.002262736],"category_scores_gemma":[0.0253336,0.0006141798,0.000793714,0.002847729,0.002542607,0.004794268,0.00169191,0.00247883,0.0004896072],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001919177,"about_ca_system_score_gemma":0.003086529,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004102155,"about_ca_topic_score_gemma":0.00310308,"domain_scores_codex":[0.9965433,0.001622613,0.0004243457,0.0006367692,0.0004376654,0.0003352699],"domain_scores_gemma":[0.978688,0.01423763,0.002444667,0.0006963853,0.002178004,0.001755322],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001212586,0.0004241608,0.5198226,0.002452011,0.0005151824,0.03157159,0.002264355,0.002521852,0.004116694,0.01662214,0.01475101,0.4037257],"study_design_scores_gemma":[0.0005142404,0.001414367,0.5928094,0.006901194,0.001545434,0.1706521,0.01803268,0.01390231,0.001159764,0.1155782,0.07678199,0.0007082461],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.3007507,0.5609047,0.01167503,0.1171324,0.0009278876,0.0002301966,0.0005937175,0.0001835232,0.007601911],"genre_scores_gemma":[0.7997339,0.168967,0.01714928,0.006828033,0.005247984,0.0002736293,0.0008808988,0.00006451186,0.0008549102],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.008853303,"threshold_uncertainty_score":0.0468213,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06834027784804715,"score_gpt":0.4475234453950487,"score_spread":0.3791831675470015,"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."}}