{"id":"W4220893801","doi":"10.1089/thy.2021.0597","title":"Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis","year":2022,"lang":"en","type":"article","venue":"Thyroid","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Neurological Institute and Hospital; McGill University; McGill University Health Centre; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Canadian Institutes of Health Research","keywords":"Exome sequencing; Congenital hypothyroidism; Medicine; Thyroid; Exome; Internal medicine; Pediatrics; Endocrinology; Genetics; Mutation; Biology; 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":[0.0005348124,0.000362658,0.0003273152,0.001055792,0.0003884481,0.0003099958,0.0002794088,0.0005986537,0.001543371],"category_scores_gemma":[0.001460476,0.0001331993,0.0004025603,0.0006347392,0.0003193601,0.0001110822,0.0004797996,0.0002140997,0.0001548097],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002115426,"about_ca_system_score_gemma":0.0001650867,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001410213,"about_ca_topic_score_gemma":0.002271907,"domain_scores_codex":[0.9996474,0.00006298505,0.00003892658,0.0001380172,0.00007422034,0.00003835587],"domain_scores_gemma":[0.9993848,0.0003382722,0.0001023403,0.00006273804,0.00005281798,0.00005907362],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002281903,0.0001504883,0.4932456,0.0004731295,0.001070286,0.02585056,0.0009029374,0.002306031,0.4466987,0.0004065329,0.000849785,0.02576419],"study_design_scores_gemma":[0.00007290613,0.0003510833,0.9444209,0.0000495048,0.0004946716,0.02680391,0.0001728235,0.002885933,0.02194471,0.0002848476,0.002497523,0.0000211961],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976923,0.0004324717,0.001014372,0.00002927723,0.000007712093,0.00001148102,0.0006156186,0.000009257389,0.0001874602],"genre_scores_gemma":[0.9972366,0.0002191437,0.001142089,0.00003950816,0.00000950179,0.00001266947,0.001101607,0.00001027926,0.0002284692],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001543371,"threshold_uncertainty_score":0.005163074,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01805198016446179,"score_gpt":0.2682325123709093,"score_spread":0.2501805322064475,"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."}}