{"id":"W4211029027","doi":"10.3389/fgene.2022.780764","title":"Case Report: Two Families With HPDL Related Neurodegeneration","year":2022,"lang":"en","type":"article","venue":"Frontiers in Genetics","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"Latvijas Zinātnes Padome; Eesti Teadusagentuur","keywords":"Proband; Hereditary spastic paraplegia; Disease; Neurodegeneration; Medicine; Genetics; Consanguinity; Biology; Bioinformatics; Pediatrics; Gene; Phenotype; Pathology; Mutation","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":[0.0001107037,0.0001299579,0.0001540588,0.0001188142,0.000259643,0.00002972988,0.0001703235,0.00002539403,0.00005134602],"category_scores_gemma":[0.0001242044,0.0001162838,0.00004180206,0.000496481,0.00009714111,0.00004705854,0.0001348597,0.0002615847,0.0000024686],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000259038,"about_ca_system_score_gemma":0.00004728317,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001173585,"about_ca_topic_score_gemma":0.000005407301,"domain_scores_codex":[0.9984103,0.0002826982,0.000263942,0.0004882247,0.0002981619,0.0002567113],"domain_scores_gemma":[0.999419,0.00002834766,0.0001060567,0.0003443495,0.00001536656,0.00008688032],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0004977906,0.0007272738,0.04976219,0.00002339182,0.00001663416,0.5400703,0.0008966831,0.2959514,0.06352952,0.00243788,0.01426502,0.03182187],"study_design_scores_gemma":[0.01157386,0.003646807,0.03342247,0.00001600601,0.0003997612,0.2307522,0.002601711,0.2212891,0.1232828,0.01841317,0.3514761,0.003126053],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952918,0.0004700322,0.001011184,0.0001866229,0.00165699,0.0002864537,0.00003256988,0.0000626151,0.001001736],"genre_scores_gemma":[0.9958275,0.0001789571,0.002016732,0.00119914,0.00004324294,0.00006260401,0.000009140395,0.0000232419,0.0006394343],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3372111,"threshold_uncertainty_score":0.4741914,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01830678753771204,"score_gpt":0.2378636505206042,"score_spread":0.2195568629828922,"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."}}