{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00006372877,0.0001113389,0.0001175716,0.00004314817,0.00006722805,0.00001286586,0.0001955187,0.0006549603,0.0001307521],"category_scores_gemma":[0.00004330507,0.00009895424,0.00008079567,0.00008629909,0.00001652082,0.000002962751,0.00005537986,0.0005136348,0.00002508424],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008822078,"about_ca_system_score_gemma":0.0001099379,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000643759,"about_ca_topic_score_gemma":0.0003954228,"domain_scores_codex":[0.9993799,0.0000102667,0.0001351147,0.0002006417,0.0001128471,0.0001612558],"domain_scores_gemma":[0.9994385,0.000007599306,0.00004617308,0.0003179515,0.00008526081,0.0001045356],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00004761083,0.00008682511,0.0009412801,0.00001513419,0.00003390529,0.00000347218,0.0001463525,0.00004374847,0.9776329,0.007799594,0.01260293,0.000646233],"study_design_scores_gemma":[0.0005540893,0.0005124065,0.06997064,0.00001670684,0.00002468675,0.0000443729,0.00005297105,0.00001083326,0.7598519,0.0006921979,0.1680003,0.0002689415],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996208,0.0001067941,0.0002601988,0.0007979971,0.000355454,0.0001352376,0.00007850412,0.00001013934,0.002047662],"genre_scores_gemma":[0.994629,0.00001135987,0.002505691,0.0006121191,0.0004025443,0.00000777243,0.00009152108,0.00001231186,0.001727685],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2177811,"threshold_uncertainty_score":0.5051653,"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."}}