{"id":"W3092502073","doi":"10.1002/ajmg.a.61907","title":"Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum","year":2020,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"Izaak Walton Killam Health Centre; Dalhousie University; University of Alberta","funders":"Estonian Research Competency Council; Eesti Teadusagentuur; Agence Nationale de la Recherche; Great Ormond Street Hospital Charity","keywords":"Biology; Genetics; Proband; Phenotype; Leukoencephalopathy; Compound heterozygosity; Genotype; Allele; Mutation; Gene; Disease; Pathology; Medicine","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":[0.0001126224,0.0001027256,0.0001716575,0.00002642749,0.00004402225,0.00002308169,0.0001435712,0.00004231833,0.00003574443],"category_scores_gemma":[0.0001063714,0.00007961308,0.00003300841,0.00010969,0.0004909273,0.000002704552,0.00005220393,0.0001026488,0.000001764745],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004130146,"about_ca_system_score_gemma":0.0002032372,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003229371,"about_ca_topic_score_gemma":0.000004763704,"domain_scores_codex":[0.9990156,0.00006255715,0.0002545393,0.0001744506,0.0003557995,0.0001370093],"domain_scores_gemma":[0.9989409,0.00001555949,0.0001772309,0.0001129396,0.00006149301,0.0006918054],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0022763,0.0005353298,0.4927627,0.0001406522,0.0007242773,0.0004927655,0.002572934,0.00102995,0.05523443,0.0007446072,0.009871607,0.4336145],"study_design_scores_gemma":[0.006986094,0.01329138,0.7640747,0.0001757182,0.0004547856,0.002428147,0.003404869,0.005831863,0.00555146,0.0003741697,0.1963346,0.001092123],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9792764,0.003360953,0.01015866,0.007040731,0.00003234078,0.0000568861,0.000004481089,0.00000339072,0.00006620237],"genre_scores_gemma":[0.9929811,0.002368574,0.002487456,0.001811089,0.0003168864,0.000002044117,0.000003816944,0.00001265971,0.0000163827],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4325224,"threshold_uncertainty_score":0.3246527,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009411810183167967,"score_gpt":0.2474816021384623,"score_spread":0.2380697919552944,"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."}}