{"id":"W3033026439","doi":"10.1136/jmedgenet-2020-106842","title":"Rare and <i>de novo</i> duplications containing <i>SHOX</i> in clubfoot","year":2020,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Research Resources; National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Cancer Institute; National Institutes of Health; Wellcome Trust; National Marfan Foundation","keywords":"Clubfoot; Copy-number variation; Genetics; Gene duplication; Biology; Pseudoautosomal region; Exome sequencing; Trisomy; Exome; Chromosome; Gene; Mutation","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":[0.0002131294,0.0002895032,0.000280066,0.001168184,0.0003370543,0.0004171266,0.0002714715,0.0005853357,0.002532552],"category_scores_gemma":[0.001105486,0.0002053802,0.0001978332,0.0007365935,0.0005180197,0.0001880867,0.0003522107,0.0002243295,0.0003299642],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001895896,"about_ca_system_score_gemma":0.0001141113,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008284678,"about_ca_topic_score_gemma":0.0009854556,"domain_scores_codex":[0.9996421,0.00003514197,0.00004032391,0.0001414993,0.00007878296,0.00006215021],"domain_scores_gemma":[0.9993922,0.0002153018,0.0002085368,0.00004678154,0.00004114499,0.00009617183],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001337032,0.0001273451,0.7570217,0.0002019795,0.0001571692,0.07978816,0.0007098374,0.0006986681,0.1319977,0.0005789343,0.0006543327,0.02672705],"study_design_scores_gemma":[0.00005093407,0.0002740377,0.8128585,0.00003844046,0.0001014275,0.1713681,0.0003669946,0.0008208929,0.01171235,0.0005148238,0.001875093,0.00001846945],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986081,0.0002828818,0.0004537395,0.00002532675,0.000004985355,0.0000060462,0.00012963,0.00001488111,0.0004745006],"genre_scores_gemma":[0.9993543,0.00008578782,0.0002329148,0.0000162308,0.00001079861,0.000002395484,0.0001158144,0.000003606611,0.0001781256],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002532552,"threshold_uncertainty_score":0.008472204,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01907853855167129,"score_gpt":0.2900844739114411,"score_spread":0.2710059353597698,"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."}}