{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0006013337,0.0002733375,0.0002889972,0.0002968987,0.0002837415,0.00005195898,0.0005768172,0.0001061305,0.0002568924],"category_scores_gemma":[0.0001680383,0.0003147025,0.0001461636,0.0006437749,0.00007384205,0.00001038213,0.001171539,0.0003650752,0.0002764266],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003536498,"about_ca_system_score_gemma":0.0003951751,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002539636,"about_ca_topic_score_gemma":0.0005522179,"domain_scores_codex":[0.9973431,0.0002844041,0.0003471044,0.0007332509,0.0005230319,0.000769084],"domain_scores_gemma":[0.9988421,0.00004858043,0.00004740561,0.0007049465,0.00008194143,0.0002750031],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002131478,0.00006215838,0.00111223,0.00001029374,0.00003500502,0.0002603355,0.0002577745,0.0004641092,0.9921557,0.00002812951,0.003617508,0.001783626],"study_design_scores_gemma":[0.005389132,0.007303034,0.04596969,0.00002250951,0.00006269765,0.001885415,0.004092984,0.001126969,0.7850502,0.0004553584,0.1459197,0.00272229],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923514,0.002375036,0.00009694799,0.0003521682,0.0001901544,0.0006299727,0.000151487,0.00004168839,0.003811133],"genre_scores_gemma":[0.9925792,0.00002403368,0.0002887478,0.0006161429,0.000205342,0.0003264819,0.00014139,0.00007550727,0.005743171],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2071055,"threshold_uncertainty_score":0.9999305,"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."}}