{"id":"W2973233026","doi":"10.1016/j.ajhg.2019.08.011","title":"Ancestry-Dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity","year":2019,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":90,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University and Génome Québec Innovation Centre","funders":"National Institute of General Medical Sciences; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; American Asthma Foundation; National Institutes of Health; National Institute on Minority Health and Health Disparities; National Institute of Environmental Health Sciences; Sandler Foundation; Severns Family Foundation","keywords":"Haplotype; Biology; Runs of Homozygosity; Genetics; Allele; Mendelian inheritance; Genetic variation; Population; Genotype; Genetic architecture; Evolutionary biology; Gene; Quantitative trait locus; Single-nucleotide polymorphism; Demography","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":[0.0005840843,0.0001771835,0.0003639495,0.0008713645,0.0005081733,0.0005448255,0.0001755424,0.0002426299,0.002015153],"category_scores_gemma":[0.001649463,0.000128507,0.000281732,0.0006986191,0.0004855553,0.000210168,0.0005901063,0.0003346561,0.0002058621],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008206029,"about_ca_system_score_gemma":0.0001115018,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001060058,"about_ca_topic_score_gemma":0.002929895,"domain_scores_codex":[0.9993423,0.0001890694,0.00004959558,0.0002656176,0.00007169231,0.00008181149],"domain_scores_gemma":[0.9987556,0.0003888067,0.0004656817,0.0002068441,0.00005954293,0.0001235738],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000518444,0.00004504986,0.829008,0.0000668072,0.0004613629,0.0008790577,0.0008366021,0.0004173846,0.1521652,0.0005320352,0.0002537136,0.01481642],"study_design_scores_gemma":[0.000006418004,0.0000397312,0.9953573,0.000005926227,0.00006545665,0.0008476858,0.0001332977,0.0005237968,0.002226151,0.0003232039,0.0004612338,0.000009803981],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981602,0.0001539347,0.0009792848,0.00002343874,0.000004323178,0.000004176428,0.0001766016,0.00001442993,0.0004836573],"genre_scores_gemma":[0.9987679,0.00008026863,0.0007051705,0.00003194422,0.000007655857,0.000005862005,0.0002059799,0.00001875604,0.0001764909],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002015153,"threshold_uncertainty_score":0.006741345,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01396710766895736,"score_gpt":0.287530725669429,"score_spread":0.2735636180004716,"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."}}