{"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":"codex-gemma-dda1882f352a","candidate_categories":["sts"],"consensus_categories":[],"category_scores_codex":[0.0003303665,0.0001792675,0.0005068083,0.0003421659,0.000408657,0.0001091504,0.00016207,0.0001041973,0.00003828786],"category_scores_gemma":[0.0006304084,0.0001510002,0.00007935721,0.000563928,0.004840378,0.0003710554,0.0002112454,0.0001271973,0.000003549786],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005187661,"about_ca_system_score_gemma":0.0001267497,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006841272,"about_ca_topic_score_gemma":0.00002859539,"domain_scores_codex":[0.998378,0.00007339245,0.0003654438,0.0005845405,0.0003278504,0.0002707753],"domain_scores_gemma":[0.9989291,0.00004012163,0.0003089249,0.0003066712,0.0001424772,0.0002726505],"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":[0.00007776386,0.0001865052,0.1840114,0.00002012578,0.0002084362,0.0004232078,0.0005105635,0.00001469737,0.8141277,0.0003382485,0.000006390835,0.00007494156],"study_design_scores_gemma":[0.001327068,0.0004206517,0.9559516,0.00007811323,0.000647045,0.000136293,0.0001052121,0.003126581,0.03674682,0.001331438,0.000002657757,0.0001265051],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985042,0.0001369473,0.000002857741,0.000333822,0.0001093041,0.0002993575,0.00002836413,0.000008528202,0.0005766099],"genre_scores_gemma":[0.9987584,0.00002353704,0.0009848939,0.00009301114,0.00001859526,0.00001025847,0.00002131624,0.000009718407,0.00008032242],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7773809,"threshold_uncertainty_score":0.9978679,"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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