{"id":"W4367676667","doi":"10.1101/2023.05.01.538953","title":"The landscape of tolerated genetic variation in humans and primates","year":2023,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary; Université de Montréal; Hôpital de l'Enfant-Jésus","funders":"National Institute on Aging; Agencia Estatal de Investigación; European Regional Development Fund; Instituto de Salud Carlos III; National Institutes of Health; Centres de Recerca de Catalunya; Sight Research UK; Department of Biotechnology, Ministry of Science and Technology, India; National Research Foundation; Indian Institute of Science; Leakey Foundation; Council of Scientific and Industrial Research, India; Natural Environment Research Council; UK Research and Innovation; National Research Foundation Singapore; Ministerio de Ciencia e Innovación; Generalitat de Catalunya; National Geographic Society; National Science Foundation","keywords":"Biology; Genetic variation; Human genome; Human genetic variation; Primate; Genome; Genetics; Allele; Evolutionary biology; DECIPHER; Genetic variants; Computational biology; 1000 Genomes Project; Human genetics; Personalized medicine; Gene; Genotype; Single-nucleotide polymorphism; Neuroscience","routes":{"ca_aff":true,"ca_fund":false,"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":[0.001321285,0.0002614305,0.0006819206,0.001429888,0.0008759483,0.001882005,0.000488551,0.0009793567,0.003057324],"category_scores_gemma":[0.005399466,0.0002956536,0.0002980764,0.001288893,0.001448257,0.001251685,0.001132922,0.000918779,0.0005804509],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004879185,"about_ca_system_score_gemma":0.0002964315,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001749287,"about_ca_topic_score_gemma":0.002855387,"domain_scores_codex":[0.9987651,0.0004067811,0.00005287229,0.000489788,0.0002023032,0.00008318661],"domain_scores_gemma":[0.9985082,0.0009447082,0.0001701705,0.0001302102,0.00008972771,0.0001568998],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.001364332,0.0001147443,0.36342,0.0009048505,0.00147685,0.006207321,0.006716947,0.02042997,0.0853736,0.06098505,0.02610732,0.426899],"study_design_scores_gemma":[0.00009638037,0.000310691,0.4537118,0.0005048455,0.0004901756,0.01096941,0.004950739,0.04013386,0.007613568,0.3775554,0.1034619,0.0002012198],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9443196,0.01450188,0.01511808,0.007833437,0.00008750893,0.00001080836,0.003294844,0.0004100247,0.01442388],"genre_scores_gemma":[0.9863566,0.003263661,0.005214129,0.001847753,0.0001803951,0.00003012415,0.001571294,0.0001915741,0.0013445],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003057324,"threshold_uncertainty_score":0.0102278,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009018819981755107,"score_gpt":0.2108708724065503,"score_spread":0.2018520524247952,"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."}}