{"id":"W4388646681","doi":"10.20944/preprints202311.0801.v1","title":"The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments","year":2023,"lang":"en","type":"preprint","venue":"Preprints.org","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Muscular Dystrophy Canada; University of Alberta","funders":"Canadian Institutes of Health Research; Alberta Innovates; Alberta Innovates - Health Solutions; BC Children's Hospital; Muscular Dystrophy Canada; Children's Hospital Foundation; Rare Disease Foundation; Ministry of Advanced Education, Government of Alberta; Women and Children's Health Research Institute; Children's Health Research Institute","keywords":"Mechanism (biology); Disease; Clinical trial; Phenotype; Bioinformatics; Genetic heterogeneity; Clinical phenotype; Medicine; Precision medicine; Dysferlin; Computational biology; Biology; Neuroscience; Gene; Genetics; Pathology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.001853426,0.0007954782,0.001171999,0.00131165,0.000492977,0.002076217,0.000612404,0.002246005,0.003718821],"category_scores_gemma":[0.002661444,0.000240835,0.0005580779,0.000703681,0.001801758,0.002235664,0.001531309,0.003742772,0.002160141],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001374586,"about_ca_system_score_gemma":0.001872663,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006477516,"about_ca_topic_score_gemma":0.001008396,"domain_scores_codex":[0.9994469,0.0001634233,0.00007883265,0.00007759551,0.0001944675,0.00003867849],"domain_scores_gemma":[0.9991761,0.0003995187,0.00007781545,0.00006327546,0.0001723586,0.0001109212],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003917385,0.0001019282,0.001083786,0.004046186,0.0001626598,0.001832177,0.0004137113,0.0006323264,0.005641835,0.08531152,0.1593115,0.7410706],"study_design_scores_gemma":[0.0001277476,0.00015993,0.002234135,0.004772587,0.0001238933,0.008629734,0.0004154352,0.0003272138,0.001636393,0.1028447,0.8786792,0.00004902255],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00236682,0.8910254,0.005874699,0.08455622,0.005458295,0.00002734582,0.000223515,0.0002856923,0.01018215],"genre_scores_gemma":[0.0246868,0.9231762,0.00963554,0.01896449,0.01242831,0.00009192455,0.0004496608,0.0001646844,0.01040236],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003718821,"threshold_uncertainty_score":0.01244068,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2019071219768581,"score_gpt":0.3705211925515131,"score_spread":0.168614070574655,"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."}}