{"id":"W2424535713","doi":"10.1111/cge.12821","title":"Identification of <i>C12orf4</i> as a gene for autosomal recessive intellectual disability","year":2016,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"Medical Research Council; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Wellcome Trust; Helsingin ja Uudenmaan Sairaanhoitopiiri; Finska Läkaresällskapet; Biomedicum Helsinki-säätiö","keywords":"Genetics; Intellectual disability; Frameshift mutation; Exome sequencing; Missense mutation; Biology; Consanguinity; Gene; Genetic counseling; Founder effect; Genetic linkage; Genetic heterogeneity; Human genetics; Mutation; Phenotype; Allele; Haplotype","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003384638,0.000118057,0.0001895037,0.00001149485,0.00004434101,0.00001024685,0.000254286,0.00018782,0.00002644232],"category_scores_gemma":[0.002097853,0.00008635797,0.0002519959,0.00004453815,0.0003986127,0.000001748796,0.0001243829,0.00003541302,0.00001658345],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009173149,"about_ca_system_score_gemma":0.0001279959,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001191427,"about_ca_topic_score_gemma":0.000004321898,"domain_scores_codex":[0.998559,0.00008005919,0.0006777642,0.0004178657,0.00008943742,0.0001758746],"domain_scores_gemma":[0.9986829,0.0002571479,0.0002184099,0.0005038313,0.000216657,0.0001211214],"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":[0.0004851589,0.00046598,0.01834328,0.00003219834,0.0001009881,7.405674e-7,0.00003085429,0.00001126362,0.9176117,0.00007409766,0.00233253,0.06051119],"study_design_scores_gemma":[0.001469014,0.001335254,0.02402774,0.0000178582,0.00009807011,0.000006986201,0.0000425674,0.0001078882,0.934833,0.002038199,0.03573589,0.000287565],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9886793,0.0006037825,0.009497948,0.0002405869,0.0003789597,0.0003017136,0.0002305482,0.000007331891,0.00005979534],"genre_scores_gemma":[0.996916,0.001049176,0.000863678,0.0001557955,0.0004001204,0.00003420187,0.00006599709,0.00002064172,0.0004944053],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06022362,"threshold_uncertainty_score":0.3521576,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02880053290252059,"score_gpt":0.3503803098909501,"score_spread":0.3215797769884295,"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."}}