{"id":"W2104787181","doi":"10.1186/1750-1172-8-62","title":"Intellectual disability associated with a homozygous missense mutation in THOC6","year":2013,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":56,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre; Western University; Medicine Hat College; Alberta Children's Hospital; University of Calgary; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Canadian Institutes of Health Research; National Heart, Lung, and Blood Institute; Université de Montréal; University of Toronto; Alberta Children's Hospital Foundation; Ontario Genomics Institute; Génome Québec; Genome British Columbia; Children's Hospital Foundation; Government of Canada; Genome Canada; March of Dimes Foundation; Institute of Genetics; Ontario Genomics; McGill University; University of Ottawa","keywords":"Missense mutation; Biology; Genetics; Gene; Intellectual disability; Exome sequencing; Gene knockdown; Mutant; Mutation","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":[0.0001063986,0.00125293,0.0004080884,0.0009264537,0.0006431214,0.0003024,0.0004466752,0.0009034571,0.003852901],"category_scores_gemma":[0.000581044,0.0001440414,0.0003791432,0.0005472312,0.0005805732,0.0001524687,0.0007466453,0.0004420053,0.0003305805],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004415734,"about_ca_system_score_gemma":0.0003431459,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001840488,"about_ca_topic_score_gemma":0.00179022,"domain_scores_codex":[0.9998535,0.000009521683,0.00001609604,0.00004036137,0.00003473069,0.00004577378],"domain_scores_gemma":[0.9995717,0.0001330374,0.0001345525,0.00002164485,0.00002896031,0.0001100867],"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":[0.0007632034,0.0001477291,0.08229313,0.0001958286,0.0001112441,0.7747067,0.0008055931,0.0003551985,0.1267171,0.0004906991,0.0007299301,0.0126837],"study_design_scores_gemma":[0.0001515911,0.0004368389,0.1919595,0.00005889258,0.0001350445,0.7672096,0.0002830262,0.0009155943,0.03549297,0.0003541611,0.002957766,0.00004501108],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998066,0.0002290678,0.0003725726,0.0001061611,0.00003012462,0.00001976329,0.0002290442,0.00004055467,0.0009065874],"genre_scores_gemma":[0.9985973,0.00009004639,0.0005348534,0.0000505487,0.00002698289,0.000009012677,0.0001894041,0.00000943584,0.0004923548],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003852901,"threshold_uncertainty_score":0.01288927,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006337422140870294,"score_gpt":0.2217073691087962,"score_spread":0.2153699469679259,"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."}}