{"id":"W2738204615","doi":"10.1167/iovs.17-21734","title":"Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci <i>TRPM1</i> and <i>ABHD2/RLBP1</i>","year":2017,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Retinal Diseases and Treatments","field":"Medicine","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Genetics; National Eye Institute; National Heart, Lung, and Blood Institute; UCL Institute of Ophthalmology, University College London; National Health and Medical Research Council; Vanderbilt University; Westmead Millennium Institute for Medical Research; Cambridge Institute for Medical Research, University of Cambridge; Medical Research Council; University of Electronic Science and Technology of China; Leonard M. Miller School of Medicine, University of Miami; Weill Cornell Medical College; School of Medicine; Perelman School of Medicine, University of Pennsylvania; School of Medicine, New York University; University of Thessaly; Radboud Universitair Medisch Centrum; Université Pierre et Marie Curie; Graduate School of Public Health, University of Pittsburgh; Rheinische Friedrich-Wilhelms-Universität Bonn; Vanderbilt University Medical Center; Sichuan University; Chinese Academy of Sciences; University College London; University of Southampton; Leonard M. Miller School of Medicine; Seoul National University; Universität Regensburg; Seoul National University Bundang Hospital; Cambridge University Hospitals; University of Pittsburgh; University of Cambridge; Massachusetts Eye and Ear; University of Alabama; University Hospital Southampton NHS Foundation Trust; School of Medicine, Case Western Reserve University; Moorfields Eye Hospital NHS Foundation Trust; University of Miami; Queen's University; Flinders University; West China Hospital, Sichuan University; Cleveland Clinic; David Geffen School of Medicine, University of California, Los Angeles; Case Western Reserve University; Johns Hopkins University; University of Pennsylvania; Radboud Universiteit; University of Alabama at Birmingham","keywords":"Genome-wide association study; Linkage disequilibrium; Genetics; Imputation (statistics); Locus (genetics); Biology; Single-nucleotide polymorphism; 1000 Genomes Project; Genetic association; Odds ratio; Nonsynonymous substitution; Genome; Genotype; Medicine; Gene; Internal medicine; Missing data","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":[0.0009258413,0.0003404169,0.0004544301,0.000735828,0.0003509503,0.0005290744,0.0003975452,0.0003539585,0.002533599],"category_scores_gemma":[0.002044101,0.0001376503,0.0008426066,0.001117759,0.0002836026,0.0001489103,0.0005282364,0.000349536,0.0003145783],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002020294,"about_ca_system_score_gemma":0.0002309559,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002134661,"about_ca_topic_score_gemma":0.002901167,"domain_scores_codex":[0.9992905,0.0001697741,0.00007692281,0.0002977798,0.0001054103,0.00005957084],"domain_scores_gemma":[0.998473,0.0004673814,0.0006297303,0.000227459,0.00008647161,0.0001159893],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002015153,0.00008629249,0.9541805,0.0001371403,0.001255039,0.0008927995,0.0001516929,0.001117279,0.02148314,0.0001812782,0.0008872484,0.01761246],"study_design_scores_gemma":[0.00013117,0.0002238814,0.9886243,0.00002792446,0.0009449928,0.00159598,0.00006440614,0.003694252,0.003115687,0.0004260399,0.001137336,0.00001413041],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957725,0.0005261814,0.001533978,0.00005780708,0.000008163669,0.000008150896,0.001795107,0.00004803975,0.000250011],"genre_scores_gemma":[0.9979649,0.00007256367,0.0006173379,0.00001752852,0.000008964362,0.000007834605,0.001171296,0.0000114309,0.0001282691],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002533599,"threshold_uncertainty_score":0.008475661,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04201138407904231,"score_gpt":0.3383570342115027,"score_spread":0.2963456501324604,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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