{"id":"W4388418818","doi":"10.1002/mds.29610","title":"Long‐Read Sequencing Resolves a Complex Structural Variant in <scp><i>PRKN</i></scp> Parkinson's Disease","year":2023,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":34,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre for Movement Disorders","funders":"National Institute of Neurological Disorders and Stroke; Japan Society for the Promotion of Science; National Institutes of Health; Promotion and Mutual Aid Corporation for Private Schools of Japan; Ministry of Health, Labour and Welfare; Japan Agency for Medical Research and Development","keywords":"Genetics; Whole genome sequencing; DNA sequencing; Exome sequencing; Compound heterozygosity; Biology; Biobank; Computational biology; Genome; Gene; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004958526,0.0004307269,0.0004166819,0.0006695469,0.0002945595,0.0006259615,0.0003048823,0.0008651415,0.001194669],"category_scores_gemma":[0.002257777,0.0001801899,0.0004281682,0.0006141725,0.0002591711,0.0001770054,0.0003979123,0.0005111875,0.0003786525],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003426282,"about_ca_system_score_gemma":0.0001630276,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001764046,"about_ca_topic_score_gemma":0.004845212,"domain_scores_codex":[0.9994475,0.00007173516,0.00006897558,0.0002261169,0.0001320894,0.00005352503],"domain_scores_gemma":[0.9986529,0.0005420261,0.0004116325,0.00009942435,0.0001903137,0.0001035434],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.002212146,0.0001973908,0.3549269,0.0004751599,0.0007938261,0.01777999,0.001423114,0.00181072,0.5805639,0.0006338435,0.00312153,0.03606145],"study_design_scores_gemma":[0.0001430928,0.0005937297,0.8921636,0.0001452259,0.0006130793,0.02881135,0.0005066135,0.005940072,0.0620972,0.0007005346,0.0082383,0.00004726108],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943801,0.0004990864,0.002535043,0.0001151316,0.00001601542,0.0000267767,0.00191249,0.00004616876,0.0004693117],"genre_scores_gemma":[0.9938077,0.0001531171,0.002992772,0.0002425425,0.00002042153,0.00001782091,0.002338548,0.00003983779,0.0003872857],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001764046,"threshold_uncertainty_score":0.003996551,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02668856142024199,"score_gpt":0.273293998275587,"score_spread":0.2466054368553451,"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."}}