{"id":"W1972571437","doi":"10.1111/j.1528-1167.2009.02013.x","title":"<i>SCN1A</i> duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis","year":2009,"lang":"en","type":"article","venue":"Epilepsia","topic":"Epilepsy research and treatment","field":"Medicine","cited_by":172,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; McGill University; Montreal Neurological Institute and Hospital","funders":"National Health and Medical Research Council; Medical Research Council; Sanofi","keywords":"Multiplex ligation-dependent probe amplification; Dravet syndrome; Copy-number variation; Gene duplication; Genetics; Comparative genomic hybridization; Biology; Epilepsy; Exon; Gene; Chromosome; Genome; Neuroscience","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":[0.0001024443,0.0001316099,0.0002197853,0.0001900098,0.0001288069,0.0000240125,0.00007358001,0.00007795034,0.00003198002],"category_scores_gemma":[0.0002179552,0.0001235509,0.00007078355,0.0004329737,0.00005600863,0.00005622299,0.00001723456,0.0001314957,0.00002095972],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008524095,"about_ca_system_score_gemma":0.0000867894,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003085849,"about_ca_topic_score_gemma":0.00003291048,"domain_scores_codex":[0.9989886,0.00002795366,0.000235279,0.0003183659,0.0001029252,0.0003269262],"domain_scores_gemma":[0.999034,0.0001773447,0.00003840105,0.0003967065,0.0001119826,0.0002414935],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001695975,0.002343241,0.8695434,0.00008924858,0.0001839562,0.0001449809,0.0001838377,0.00001880706,0.02637847,0.0413275,0.007605809,0.05201118],"study_design_scores_gemma":[0.001562062,0.0006893829,0.9872678,0.00005156521,0.00007299148,0.0001420544,0.00001505494,0.0001107877,0.001726558,0.005483121,0.002765986,0.0001126208],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9583721,0.0009476145,0.003693383,0.03394941,0.00001456395,0.001800347,0.0001272752,0.00009083451,0.001004479],"genre_scores_gemma":[0.9917607,0.000449,0.005119064,0.0006199732,0.00001802742,0.001694542,0.0002027493,0.00001665012,0.0001192436],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1177244,"threshold_uncertainty_score":0.503826,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01842595210144752,"score_gpt":0.3189922286437893,"score_spread":0.3005662765423418,"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."}}