{"id":"W2536907123","doi":"10.1093/hmg/ddw348","title":"Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance","year":2016,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":59,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Genetics; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; National Institute on Aging; Leona M. and Harry B. Helmsley Charitable Trust; Medical Research Council; National Cancer Institute; Landspítali Háskólasjúkrahús; Research Councils UK; Parkinson's UK; Agence Nationale de la Recherche; University College London; Biotechnology and Biological Sciences Research Council; Wellcome Trust; University of Dundee; Helsingin ja Uudenmaan Sairaanhoitopiiri; Helsingin Yliopisto; Bundesministerium für Bildung und Forschung; Parkinson Vereniging; Michael J. Fox Foundation for Parkinson's Research; American Parkinson Disease Association; Itä-Suomen Yliopisto; Prothena; Directorate for Biological Sciences; National Institutes of Health; U.S. Department of Health and Human Services","keywords":"Inheritance (genetic algorithm); Genetics; Disease; Parkinson's disease; Mutation; Biology; Medicine; Gene; Internal medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008435387,0.0001902562,0.0001736662,0.0001055387,0.0001259552,0.00004113557,0.0001364567,0.00007394017,0.000327904],"category_scores_gemma":[0.0001230463,0.0001541738,0.0001083163,0.0001592745,0.0001233516,0.000009347646,0.00006304017,0.00003389019,0.00000245118],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002944515,"about_ca_system_score_gemma":0.0001548057,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001000014,"about_ca_topic_score_gemma":0.0004764849,"domain_scores_codex":[0.9988227,0.00007423043,0.0002519623,0.0004722283,0.000133125,0.0002456825],"domain_scores_gemma":[0.9992262,0.00005758654,0.0001043137,0.0003562245,0.000132617,0.0001230565],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001125806,0.0004611408,0.3861914,0.0002120841,0.002143187,0.0003716721,0.0003852715,0.003479686,0.5965906,0.003223306,0.002339414,0.003476457],"study_design_scores_gemma":[0.002663159,0.0009306164,0.9599581,0.0003317244,0.001233573,0.0001625107,0.0001830674,0.0003598427,0.01179514,0.002120021,0.0191603,0.001101971],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9809514,0.003289453,0.01130056,0.00007620931,0.00001528094,0.0003378142,0.00399944,0.000009549515,0.0000202861],"genre_scores_gemma":[0.9922924,0.0002856803,0.005094602,0.0001069808,0.00007274951,0.0003961689,0.001475092,0.00002809336,0.0002482461],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5847955,"threshold_uncertainty_score":0.6287024,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02150087070946894,"score_gpt":0.2640982777830285,"score_spread":0.2425974070735596,"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."}}