{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00006936877,0.0002121024,0.0001616289,0.00006340007,0.00006769989,0.00009232482,0.0002476186,0.0001570261,0.0001958313],"category_scores_gemma":[0.00007759398,0.0001973433,0.0001692099,0.0001126072,0.00003423212,0.00000306497,0.000143351,0.00006948831,0.0004022699],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002120955,"about_ca_system_score_gemma":0.000133424,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001208306,"about_ca_topic_score_gemma":0.0000509938,"domain_scores_codex":[0.9987748,0.00003420874,0.0002269644,0.000570433,0.00009223852,0.0003013354],"domain_scores_gemma":[0.9993207,0.00005533809,0.00002652508,0.0003576828,0.00003496277,0.0002047996],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00003260746,0.00005156565,0.001869386,0.00002744416,0.0002442659,0.0001417062,0.0002014512,0.0003102001,0.95621,0.00008538304,0.0199302,0.02089582],"study_design_scores_gemma":[0.0007469787,0.0004421307,0.0921588,0.0001466282,0.000308096,0.00009664118,0.0003276592,0.0003830428,0.1715524,0.002064336,0.7306231,0.001150122],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9754329,0.02175217,0.0002811048,0.0004473525,0.0008412286,0.0002227616,0.0004878315,0.00005327181,0.0004813304],"genre_scores_gemma":[0.9958393,0.0007562028,0.000353227,0.0003718515,0.0007707826,0.00005886998,0.0006674661,0.00005710221,0.001125222],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7846575,"threshold_uncertainty_score":0.8047428,"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."}}