{"id":"W2934299249","doi":"10.1101/597781","title":"Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion in <i>RFC1</i> causes CANVAS","year":2019,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto Western Hospital; University of Toronto; University Health Network","funders":"National Health and Medical Research Council; National Institute of Neurological Disorders and Stroke; Children’s Hospital of Wisconsin Research Institute; Medical Research Council; Australian Government; Murdoch Children's Research Institute; National Institutes of Health","keywords":"Alu element; Genome; DNA sequencing; Gene; Whole genome sequencing; Genomics; Human genetics; Disease gene identification; Copy-number variation; Trinucleotide repeat expansion","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.002689983,0.0007674313,0.0005108027,0.00135971,0.0005161326,0.001078038,0.0007445496,0.0006480001,0.001077855],"category_scores_gemma":[0.004312365,0.0002182229,0.0008337581,0.0007289189,0.0003070479,0.0003879178,0.000517654,0.0004818334,0.0008229492],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003708102,"about_ca_system_score_gemma":0.000496127,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001229664,"about_ca_topic_score_gemma":0.001381579,"domain_scores_codex":[0.9987354,0.0003554974,0.0001285858,0.0003651032,0.0003235831,0.0000918973],"domain_scores_gemma":[0.9979175,0.001129118,0.0002437182,0.000163754,0.0003968735,0.0001490618],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.002814871,0.001246017,0.1763514,0.0006030529,0.0008191759,0.002394243,0.0005072614,0.04616686,0.6269698,0.001214804,0.004296897,0.1366157],"study_design_scores_gemma":[0.0002110983,0.0009713238,0.0840562,0.00006906637,0.0003819618,0.001877074,0.0001896754,0.5914472,0.3156656,0.0009579388,0.004091084,0.00008172508],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9433355,0.000250059,0.04987027,0.0002036334,0.00004061764,0.0001871953,0.001697384,0.00320954,0.001205836],"genre_scores_gemma":[0.8727631,0.000115241,0.1207138,0.0001985964,0.0000234395,0.0001334522,0.005107614,0.0004625812,0.0004822703],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002689983,"threshold_uncertainty_score":0.0142262,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04646729622653958,"score_gpt":0.285735357746086,"score_spread":0.2392680615195464,"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."}}