{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001056974,0.0001579268,0.0002545809,0.00005901877,0.00004218808,0.00005288895,0.000154402,0.00007057636,0.000197498],"category_scores_gemma":[0.0008288884,0.0001149015,0.0001462028,0.0001219212,0.000129031,0.00001542576,0.00003302895,0.00008570866,0.000007247986],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003936343,"about_ca_system_score_gemma":0.000179844,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002696249,"about_ca_topic_score_gemma":0.00006440322,"domain_scores_codex":[0.9989636,0.0001304931,0.0003452908,0.000176931,0.0001803949,0.0002033019],"domain_scores_gemma":[0.9990507,0.0000908763,0.0002382197,0.0001629245,0.0002626181,0.0001946257],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01547311,0.01490532,0.6860175,0.000480441,0.003383794,0.01614484,0.00307839,0.009660053,0.1099074,0.00006659827,0.08238146,0.05850112],"study_design_scores_gemma":[0.01308397,0.005960542,0.9483641,0.0006945485,0.0007746805,0.005510184,0.005507767,0.0005851961,0.01247764,0.001426718,0.003884437,0.00173024],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973971,0.002043257,0.00005091087,0.00009484074,0.00008932118,0.0001997579,0.00006350412,0.000004961468,0.00005632758],"genre_scores_gemma":[0.9992958,0.0001235833,0.0000755256,0.000109712,0.0001119492,0.000011852,0.0001569519,0.00001909257,0.00009551386],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2623466,"threshold_uncertainty_score":0.4685546,"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."}}