{"id":"W2755489603","doi":"10.1002/ajmg.a.38354","title":"<i>HLX</i> is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia","year":2017,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Congenital Diaphragmatic Hernia Studies","field":"Medicine","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université du Québec à Montréal; North York General Hospital; Kingston General Hospital; Mount Sinai Hospital; University of Toronto; SickKids Foundation; Hospital for Sick Children; Trillium Health Centre","funders":"University of Toronto; McLaughlin Centre, University of Toronto","keywords":"Asplenia; Diaphragmatic hernia; Homeobox; Missense mutation; Biology; Congenital diaphragmatic hernia; Genetics; Exome sequencing; Fetus; Anatomy; Medicine; Mutation; Gene; Hernia; Transcription factor; Immunology; Pregnancy; Surgery","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":[0.0001017431,0.0007057791,0.000270326,0.0008227074,0.0003731677,0.0001939265,0.0003136568,0.0006881419,0.00259399],"category_scores_gemma":[0.0004324229,0.0001237002,0.0002784052,0.0003284211,0.0005658334,0.0001787796,0.0002926309,0.000570617,0.0002417285],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001942731,"about_ca_system_score_gemma":0.0001212406,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006731883,"about_ca_topic_score_gemma":0.0006338696,"domain_scores_codex":[0.9998869,0.00001579259,0.00001264437,0.0000412202,0.00002374087,0.00001977704],"domain_scores_gemma":[0.9997242,0.00009142924,0.0001045945,0.000008346401,0.000008435698,0.00006293093],"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":[0.0008548183,0.0001850257,0.1298562,0.0002495805,0.0002004445,0.5467185,0.0005739866,0.0004119881,0.2923436,0.002246458,0.001482643,0.02487683],"study_design_scores_gemma":[0.00009543185,0.0004251986,0.312265,0.00007004906,0.0001422819,0.6343567,0.000256204,0.00123392,0.04540702,0.0008190366,0.004895379,0.00003361263],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994848,0.0006253825,0.00143027,0.0006832225,0.00005395375,0.00003106875,0.0003802014,0.0000926039,0.001855322],"genre_scores_gemma":[0.997308,0.0001805765,0.001243902,0.0001538641,0.00008499381,0.000008403088,0.0001906681,0.00001709349,0.0008123067],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00259399,"threshold_uncertainty_score":0.008677781,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01834088474879922,"score_gpt":0.2973728593237001,"score_spread":0.2790319745749009,"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."}}