{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002085869,0.0003652867,0.0002957078,0.001070759,0.000261222,0.0004323581,0.0002699855,0.0004927529,0.002171099],"category_scores_gemma":[0.001291633,0.0001447199,0.000179516,0.0006970632,0.0003690511,0.000242999,0.0004765983,0.0002597941,0.0002541964],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001772045,"about_ca_system_score_gemma":0.0001592045,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006867311,"about_ca_topic_score_gemma":0.0005989379,"domain_scores_codex":[0.9996675,0.00009250385,0.00002327369,0.00008740542,0.00005813113,0.00007122476],"domain_scores_gemma":[0.9995944,0.0001305018,0.0001448062,0.00002067463,0.00004175059,0.00006794275],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009899401,0.00007531107,0.791255,0.0001558246,0.0002371229,0.05571725,0.001027079,0.0009030315,0.09503993,0.002658608,0.00122897,0.05071191],"study_design_scores_gemma":[0.0000214833,0.0002386669,0.9330107,0.00006053177,0.0001399725,0.05736026,0.0005748566,0.0008857638,0.002913616,0.001634931,0.003136002,0.00002321915],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963457,0.001381458,0.0002410274,0.0002290335,0.000005275489,0.00000529232,0.0001043714,0.00001094992,0.00167695],"genre_scores_gemma":[0.9985709,0.0007829105,0.0001959863,0.00006438539,0.00002865644,0.000003411529,0.0001520885,0.000007385725,0.0001941604],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002171099,"threshold_uncertainty_score":0.007263064,"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."}}