{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009258606,0.000293447,0.0005781019,0.002802712,0.0005939484,0.000684639,0.0004244903,0.0004995148,0.001759018],"category_scores_gemma":[0.003223805,0.0002552545,0.0005741601,0.001286261,0.0004703623,0.0002557893,0.0008337501,0.0003212243,0.0003189645],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000193716,"about_ca_system_score_gemma":0.0001726441,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002606839,"about_ca_topic_score_gemma":0.003426373,"domain_scores_codex":[0.998552,0.0002148971,0.0002096559,0.0005974909,0.0002936343,0.0001322412],"domain_scores_gemma":[0.9978406,0.000602471,0.0007065826,0.0002634034,0.0002366085,0.0003503059],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005173846,0.00004213136,0.9843354,0.00002782324,0.0001602629,0.002063629,0.0003360471,0.00007000267,0.008606692,0.00008659424,0.00009217355,0.003661702],"study_design_scores_gemma":[0.00002059585,0.0001403421,0.9927351,0.000007046177,0.00008358128,0.005188623,0.0001232146,0.0002621562,0.0009474554,0.000112949,0.0003694221,0.000009419785],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992402,0.0001678005,0.0001959634,0.000009112141,0.000004057193,0.000006439539,0.0001491538,0.00000521267,0.000222191],"genre_scores_gemma":[0.9992049,0.00007259815,0.0002493417,0.00001541638,0.000006804441,0.00000851184,0.0003169974,0.000007121146,0.000118266],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002802712,"threshold_uncertainty_score":0.005884528,"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."}}