{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002126597,0.0007599823,0.0003480832,0.0009517038,0.0005171714,0.0003004917,0.0003843271,0.000818805,0.002124209],"category_scores_gemma":[0.0007580739,0.00009945347,0.0004002227,0.0005139298,0.0004410288,0.0001525369,0.0003625659,0.000366706,0.0003628904],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002471007,"about_ca_system_score_gemma":0.0003180669,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002360247,"about_ca_topic_score_gemma":0.001533664,"domain_scores_codex":[0.9998161,0.00002789765,0.000025741,0.00005262523,0.00004613789,0.00003153489],"domain_scores_gemma":[0.9997429,0.00009321755,0.00008226012,0.00001298071,0.00003561097,0.00003304731],"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":[0.001105523,0.0002010996,0.2600968,0.0004588588,0.0002890275,0.2529039,0.0008459862,0.0006899045,0.4263116,0.00158151,0.002275661,0.05324015],"study_design_scores_gemma":[0.0001138457,0.0008186148,0.4951228,0.0002441453,0.0005866648,0.3597478,0.0008190107,0.002391276,0.1180796,0.001588611,0.02041083,0.000076815],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9932034,0.00167988,0.001738347,0.0003963677,0.000048583,0.00003069942,0.0003628696,0.00006479213,0.002475053],"genre_scores_gemma":[0.996277,0.0008229081,0.001549032,0.0001283195,0.00005312899,0.00001183252,0.0003981967,0.00001191291,0.0007476097],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002360247,"threshold_uncertainty_score":0.007106245,"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."}}