{"id":"W4400130147","doi":"10.3390/genes15070836","title":"From Alpha-Thalassemia Trait to NPRL3-Related Epilepsy: A Genomic Diagnostic Odyssey","year":2024,"lang":"en","type":"article","venue":"Genes","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children’s Health Research Institute; London Health Sciences Centre; Western University","funders":"","keywords":"Epilepsy; Proband; Penetrance; Haploinsufficiency; Genetics; Alpha-thalassemia; Cortical dysplasia; Biology; Medicine; Neuroscience; Phenotype; Mutation; Gene; Genotype","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":[0.000331022,0.001497042,0.0004777673,0.002095254,0.0007825214,0.000844873,0.0007593308,0.001524889,0.002104632],"category_scores_gemma":[0.002212002,0.0003975082,0.0003377169,0.0009711235,0.001145393,0.001501856,0.001647196,0.001727011,0.0006684019],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005704076,"about_ca_system_score_gemma":0.000416377,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001119415,"about_ca_topic_score_gemma":0.0009464726,"domain_scores_codex":[0.9996357,0.00004993801,0.00005449862,0.00008865524,0.00006285531,0.0001083859],"domain_scores_gemma":[0.9993595,0.000220125,0.0001449803,0.00003897546,0.00008008695,0.0001563539],"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":[0.00006637088,0.00002278892,0.01835242,0.00008247726,0.00001357376,0.9641356,0.0003160983,0.0001349374,0.003294165,0.0008429103,0.001862893,0.01087563],"study_design_scores_gemma":[0.000006317768,0.00002205349,0.005202502,0.00004874132,0.00001104461,0.991874,0.0002180143,0.0001495574,0.0004007026,0.0006182046,0.001442716,0.000006198236],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9140596,0.02839736,0.01323691,0.01672903,0.0009386642,0.0003015681,0.0007160341,0.0006038675,0.02501711],"genre_scores_gemma":[0.9829659,0.008167754,0.003704625,0.002353239,0.001339736,0.00003640878,0.0002601771,0.00004967457,0.001122378],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002104632,"threshold_uncertainty_score":0.007040739,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005479886960537922,"score_gpt":0.2339913274580044,"score_spread":0.2285114404974664,"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."}}