{"id":"W2148014375","doi":"10.1093/hmg/ddu199","title":"The genetic landscape of infantile spasms","year":2014,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":188,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Neurological Institute and Hospital; McGill University; Centre Hospitalier de l’Université de Montréal; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Scottish Rite Charitable Foundation of Canada; Savoy Foundation; Genome Canada","keywords":"Biology; Genetics; Exome sequencing; Proband; Gene duplication; Copy-number variation; Mutation; Genetic heterogeneity; Candidate gene; Exome; Gene; Compound heterozygosity; Phenotype; Genome","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":[0.0001232904,0.0001533382,0.0001271449,0.00002991686,0.0001624917,0.00003624938,0.0003749099,0.00009373032,0.00001582076],"category_scores_gemma":[0.0000440062,0.000122748,0.0001382765,0.0000596175,0.0001424403,6.717785e-7,0.0001659454,0.00005394949,0.000009330077],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002678254,"about_ca_system_score_gemma":0.00003999027,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000057706,"about_ca_topic_score_gemma":0.00002075185,"domain_scores_codex":[0.9990066,0.0000730398,0.0002533324,0.0002589429,0.0001580305,0.0002500472],"domain_scores_gemma":[0.9989967,0.00001158158,0.0001111478,0.0006868941,0.0001046393,0.00008898535],"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":[0.00002192726,0.00005654687,0.00638843,0.00002018446,0.00006985912,0.00000583897,0.00002706102,0.001112226,0.9857048,0.001338496,0.001773022,0.003481544],"study_design_scores_gemma":[0.001522557,0.001195545,0.1951613,0.00002571803,0.000167749,0.00005561723,0.0001107679,0.001037463,0.5398673,0.004265136,0.2557778,0.0008130057],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9908909,0.003700973,0.002404293,0.00003203812,0.0001022647,0.0001361642,0.00001098946,0.000007380306,0.002715023],"genre_scores_gemma":[0.9982596,0.0003372389,0.0007963953,0.0001613006,0.0001407919,0.00001186488,0.00005646478,0.00003513458,0.0002012293],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4458375,"threshold_uncertainty_score":0.5005516,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004120188616127587,"score_gpt":0.2197839610751628,"score_spread":0.2156637724590352,"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."}}