{"id":"W2277514647","doi":"10.1002/ajmg.a.37598","title":"De novo 14q24.2q24.3 microdeletion including <i>IFT43</i> is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia","year":2016,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":35,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"Universitair Medisch Centrum Utrecht; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Nierstichting; ZonMw","keywords":"Biology; Sanger sequencing; Exome sequencing; Genetics; Phenotype; Gene; Comparative genomic hybridization; Exome; Candidate gene; Chromosome; Mutation","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":[0.00009053653,0.001002597,0.0004886602,0.00116088,0.0005147137,0.0004108609,0.0002923186,0.001092027,0.002478798],"category_scores_gemma":[0.0003579448,0.0003697592,0.0003802216,0.0007637314,0.0004070288,0.0001778535,0.0004350291,0.0006288565,0.0008781353],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002379994,"about_ca_system_score_gemma":0.0001944314,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001016445,"about_ca_topic_score_gemma":0.001011817,"domain_scores_codex":[0.9998229,0.00001576357,0.00001484728,0.00007188293,0.00004118955,0.00003328713],"domain_scores_gemma":[0.9998294,0.0000318248,0.00009047282,0.000008452039,0.00000800523,0.00003188638],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0002622459,0.0001155582,0.07257461,0.0001770848,0.000149652,0.5372553,0.0006669497,0.0003934568,0.3619145,0.0007332075,0.001983512,0.02377396],"study_design_scores_gemma":[0.00002567505,0.0001890331,0.1825596,0.00004629907,0.0001382501,0.7701814,0.0001583323,0.0005377698,0.03552063,0.0004146585,0.01019349,0.00003495397],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9916906,0.002567016,0.002150455,0.0003798172,0.00005821058,0.00003490556,0.0007289885,0.0002145394,0.002175461],"genre_scores_gemma":[0.9920115,0.002055441,0.002438177,0.0001597765,0.00007600961,0.00002492754,0.0007558092,0.00005674324,0.002421508],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002478798,"threshold_uncertainty_score":0.008292437,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009572800665555431,"score_gpt":0.239607709632339,"score_spread":0.2300349089667836,"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."}}