{"id":"W2142639320","doi":"10.1002/ajmg.a.36799","title":"Whole exome sequencing identifies a <i>POLRID</i> mutation segregating in a father and two daughters with findings of Klippel–Feil and Treacher Collins syndromes","year":2014,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Craniofacial Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Treacher Collins syndrome; Exome sequencing; Craniofacial; Mutation; Genetics; Hypoplasia; Medicine; Hypertelorism; Biology; Anatomy; 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":[0.0002072921,0.0008783521,0.0004400025,0.0009769097,0.0006994862,0.0006245268,0.0004024344,0.001461591,0.001634691],"category_scores_gemma":[0.001064973,0.0004445825,0.0004215482,0.0002897114,0.0006084887,0.0002722815,0.0005980543,0.0007568013,0.0004664386],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002298376,"about_ca_system_score_gemma":0.000162755,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0010002,"about_ca_topic_score_gemma":0.001097191,"domain_scores_codex":[0.9996922,0.00003152181,0.00003444132,0.0001224487,0.00006515712,0.00005428315],"domain_scores_gemma":[0.9994553,0.0002087765,0.0001260921,0.0000309162,0.000039234,0.0001398168],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0002603327,0.0001465131,0.08743398,0.00005706215,0.00004660578,0.849803,0.001533134,0.0002378783,0.05134097,0.0002992285,0.0005651217,0.008276142],"study_design_scores_gemma":[0.00003553984,0.0002961793,0.09413972,0.00003154366,0.00007289145,0.8886687,0.00059442,0.0006264235,0.01258365,0.0001665035,0.002757039,0.0000274112],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973862,0.0002442721,0.000706216,0.0002527263,0.00002602318,0.00001833782,0.0002224999,0.00002610894,0.001117645],"genre_scores_gemma":[0.9980932,0.0001847735,0.0007742818,0.0001490465,0.00003359413,0.000007487097,0.0001420293,0.00001881872,0.0005968252],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001634691,"threshold_uncertainty_score":0.005468547,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008501822845224452,"score_gpt":0.2630087357995158,"score_spread":0.2545069129542913,"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."}}