{"id":"W2138196920","doi":"10.1038/nature10423","title":"Deep sequencing reveals 50 novel genes for recessive cognitive disorders","year":2011,"lang":"en","type":"article","venue":"Nature","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":987,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Manitoba","funders":"Federalno Ministarstvo Obrazovanja i Nauke; Iran National Science Foundation; Bundesministerium für Bildung und Forschung","keywords":"Intellectual disability; Genetics; Gene; Biology; Disease gene identification; Phenotype; Disease; Human genetics; Candidate gene; Exon; Exome sequencing; Medicine","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0002997523,0.001385507,0.000848438,0.001332604,0.0005900178,0.001023699,0.0006717485,0.00119913,0.002456846],"category_scores_gemma":[0.0006222649,0.0004902932,0.0009321541,0.000753978,0.000659056,0.0002295824,0.0007217547,0.0008726698,0.000885991],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007259041,"about_ca_system_score_gemma":0.0005182266,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002891907,"about_ca_topic_score_gemma":0.007319753,"domain_scores_codex":[0.9995552,0.00002427881,0.00003708964,0.0001457485,0.0001525001,0.0000852444],"domain_scores_gemma":[0.9994974,0.00018803,0.0001120129,0.0000514687,0.00003576486,0.0001153552],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001073346,0.0001643602,0.04362508,0.0001840097,0.0004090236,0.01168905,0.0003843465,0.001619618,0.8934115,0.001688214,0.003341428,0.04241004],"study_design_scores_gemma":[0.0004294094,0.0005471475,0.6872779,0.0002258051,0.001814343,0.03710419,0.0005173162,0.01056668,0.2055148,0.009432315,0.04633196,0.0002381147],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9813213,0.001671521,0.005325402,0.0005129242,0.00009306365,0.0000348057,0.00791829,0.0003067025,0.002815938],"genre_scores_gemma":[0.9840735,0.001039095,0.006667613,0.0007659057,0.00005779741,0.00004212867,0.00479901,0.0001712443,0.002383721],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002891907,"threshold_uncertainty_score":0.008218944,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01649529574436491,"score_gpt":0.2562359805717772,"score_spread":0.2397406848274122,"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."}}