{"id":"W4200255416","doi":"10.1101/gr.269530.120","title":"Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences","year":2021,"lang":"en","type":"review","venue":"Genome Research","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":86,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Canadian Institutes of Health Research; Natural Sciences and Engineering Research Council of Canada; Canada Research Chairs; Fondation Brain Canada","keywords":"Biology; Genetics; Trinucleotide repeat expansion; Tandem repeat; Computational biology; Genome; Disease; Locus (genetics); DNA sequencing; Gene; Allele","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":[0.006459877,0.0006449356,0.0008256173,0.002720833,0.0003789342,0.002539708,0.00119677,0.002657463,0.007832332],"category_scores_gemma":[0.01834454,0.0003709971,0.0006018982,0.001813679,0.002014013,0.0040389,0.001902469,0.004098037,0.003667584],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001393239,"about_ca_system_score_gemma":0.002066021,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001220114,"about_ca_topic_score_gemma":0.001151118,"domain_scores_codex":[0.9972523,0.0008594404,0.0002456648,0.0007530246,0.0007549268,0.0001347545],"domain_scores_gemma":[0.9787309,0.01151979,0.001773027,0.001673346,0.005009477,0.001293432],"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":[0.0003553232,0.0001408154,0.03033145,0.002452635,0.0001774152,0.001556315,0.0007754433,0.001107226,0.02101021,0.04544358,0.08562756,0.8110222],"study_design_scores_gemma":[0.00009828991,0.0003375356,0.02452348,0.001806014,0.0002732954,0.009471698,0.001106677,0.002906883,0.01347818,0.09992918,0.845884,0.0001847113],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.05115644,0.4532077,0.1617456,0.2760649,0.009287633,0.0002196946,0.005714123,0.00407183,0.03853206],"genre_scores_gemma":[0.2369312,0.4261756,0.2195383,0.07000611,0.02253264,0.0002976515,0.007599439,0.0006418969,0.01627721],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.007832332,"threshold_uncertainty_score":0.03416348,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2678258134466668,"score_gpt":0.4765889791147822,"score_spread":0.2087631656681153,"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."}}