{"id":"W2005710199","doi":"10.1038/nature08727","title":"A new highly penetrant form of obesity due to deletions on chromosome 16p11.2","year":2010,"lang":"en","type":"article","venue":"Nature","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":560,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; McGill University and Génome Québec Innovation Centre","funders":"National Heart, Lung, and Blood Institute; European Regional Development Fund; Socialstyrelsen; National Institutes of Health; Fédération Française de Cardiologie; Association Diabète Risque Vasculaire; Jeanssons Stiftelser; Université de Lausanne; Vetenskapsrådet; Ludwig Institute for Cancer Research; Israel Science Foundation; National Institute of Mental Health; VINNOVA; Stiftelsen för Strategisk Forskning; Research Councils UK; Medical Research Council; Les Laboratories Pierre Fabre; Wellcome Trust; Institut National de la Santé et de la Recherche Médicale; Fondation de France; Novo Nordisk; National Institute for Health and Care Research; Direction de l’hospitalisation et de l’offre de Soins; Eli Lilly and Company; Genome Canada; Åke Wiberg Stiftelse; Oulun Yliopisto; Novartis Pharma; European Commission; Biocenter, University of Oulu; Sanofi; GlaxoSmithKline","keywords":"Missing heritability problem; Genetics; Biology; Obesity; Penetrance; Genome-wide association study; Copy-number variation; Heritability; Population; Genetic heterogeneity; Single-nucleotide polymorphism; Phenotype; Bioinformatics; Gene; Medicine; Genotype; Genome; Endocrinology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001596124,0.002087181,0.0005993507,0.001250934,0.0004709378,0.0004888996,0.0005901108,0.00120117,0.00273826],"category_scores_gemma":[0.0006120045,0.0005082733,0.0004299351,0.0009189493,0.0009318485,0.000319611,0.0009712578,0.001064021,0.000399671],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002083162,"about_ca_system_score_gemma":0.000263062,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007336693,"about_ca_topic_score_gemma":0.0009805009,"domain_scores_codex":[0.9997411,0.00002687509,0.00002306505,0.0001040326,0.00005578408,0.00004906499],"domain_scores_gemma":[0.9994975,0.0001008017,0.0001899685,0.0000543268,0.00002405981,0.000133357],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001130322,0.0002877139,0.01544439,0.0001748315,0.0001308546,0.5888277,0.0004595662,0.0003720071,0.3712174,0.003813126,0.002115421,0.01602664],"study_design_scores_gemma":[0.0001493332,0.0006962987,0.07069949,0.00003184495,0.0001204444,0.9063111,0.0001085369,0.0006767972,0.01398655,0.001138736,0.006023711,0.00005719826],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9856499,0.001217421,0.00591754,0.0007190367,0.0002075243,0.0001109204,0.000939596,0.0002654658,0.004972619],"genre_scores_gemma":[0.9885018,0.0007190669,0.003709399,0.0002352367,0.0001883075,0.00003869042,0.0007160921,0.00007459709,0.005816751],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00273826,"threshold_uncertainty_score":0.009160399,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003589088861577031,"score_gpt":0.2185967962313942,"score_spread":0.2150077073698172,"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."}}