{"id":"W867437991","doi":"10.1016/j.ejmg.2015.06.006","title":"Rare ACTG1 variants in fetal microlissencephaly","year":2015,"lang":"en","type":"article","venue":"European Journal of Medical Genetics","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":32,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal","funders":"Agence Nationale de la Recherche; European Commission","keywords":"Lissencephaly; Microcephaly; Exome sequencing; Hypertelorism; Pachygyria; Medicine; Missense mutation; Ventriculomegaly; Genetic counseling; Exome; Anatomy; Genetics; Pediatrics; Biology; Mutation; Fetus; Pregnancy; Gene","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":[0.001631111,0.0001268266,0.0003135443,0.0001251268,0.00001463548,0.00001460976,0.0003457264,0.00007126626,0.0003164074],"category_scores_gemma":[0.001736368,0.00008679005,0.0001103348,0.0002406204,0.0001183111,0.00003491474,0.0001008942,0.0007049299,0.0001072603],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001721643,"about_ca_system_score_gemma":0.0003170975,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002123942,"about_ca_topic_score_gemma":0.000001382703,"domain_scores_codex":[0.9975154,0.0003857045,0.0006210259,0.0001375881,0.001096126,0.0002441695],"domain_scores_gemma":[0.9985539,0.00007139717,0.000215992,0.0001334745,0.0001353898,0.000889871],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.003065736,0.00253652,0.1822573,0.0001743735,0.0001692135,0.1099841,0.002193607,0.0002260022,0.003128363,0.00008843677,0.06961877,0.6265576],"study_design_scores_gemma":[0.02400097,0.009003076,0.739036,0.0004029752,0.0002581159,0.01287459,0.0007568648,0.001032403,0.0003085406,0.0006521983,0.2111322,0.0005420834],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9772487,0.003530476,0.0005827967,0.007640045,0.0006001696,0.00007833515,0.000002026048,0.00001022199,0.01030719],"genre_scores_gemma":[0.9939896,0.001300229,0.001021774,0.002673836,0.0008214033,1.689642e-7,0.000002013315,0.00002032121,0.0001706561],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6260155,"threshold_uncertainty_score":0.3539195,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04190454608334562,"score_gpt":0.28311142700509,"score_spread":0.2412068809217443,"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."}}