{"id":"W4284988218","doi":"10.1002/adbi.202101326","title":"Genome‐Wide Polygenic Score Predicts Large Number of High Risk Individuals in Monogenic Undiagnosed Young Onset Parkinson's Disease Patients from India","year":2022,"lang":"en","type":"article","venue":"Advanced Biology","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"Parkinson's Clinic of Eastern Toronto & Movement Disorders Centre","funders":"","keywords":"Disease; Genetics; LRRK2; Biology; Polygenic risk score; Parkinson's disease; Genome-wide association study; Gene; Bioinformatics; Medicine; Genotype; Single-nucleotide polymorphism; Internal medicine; 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":[0.0001461758,0.0002206986,0.0002756743,0.00008931288,0.00009098907,0.000004535145,0.0003215652,0.0001218763,0.0001452386],"category_scores_gemma":[0.000188316,0.000239455,0.0001062696,0.0001883595,0.0000587187,0.000005067905,0.0004050741,0.0002068264,0.000006094367],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004259783,"about_ca_system_score_gemma":0.00007574486,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000147841,"about_ca_topic_score_gemma":0.0001436683,"domain_scores_codex":[0.9983568,0.0001813097,0.0003640015,0.0005382056,0.0001248276,0.0004348373],"domain_scores_gemma":[0.9991529,0.00005398375,0.0001898068,0.0004425346,0.0000338553,0.000126938],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001903831,0.0002123802,0.9882001,0.000008022808,0.00007179005,0.000005946731,0.00007274192,0.001762577,0.008719482,0.00001294339,0.00003679751,0.0007068546],"study_design_scores_gemma":[0.002307502,0.000252048,0.9818314,0.000006479232,0.00003969396,0.000001600898,0.00005794496,0.00001924743,0.005188084,0.0005582721,0.009482837,0.0002549466],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921928,0.001878572,0.0005015538,0.00001288273,0.0003424014,0.000365114,0.004665567,0.00001580435,0.00002532012],"genre_scores_gemma":[0.9932321,0.0007292388,0.0005071055,0.000121435,0.00005987819,0.0001741122,0.005115208,0.00003443769,0.00002648997],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00944604,"threshold_uncertainty_score":0.976469,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003702970835259159,"score_gpt":0.2614822648334307,"score_spread":0.2577792939981716,"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."}}