{"id":"W2790182576","doi":"10.1016/j.ajhg.2018.02.013","title":"Relationship between Deleterious Variation, Genomic Autozygosity, and Disease Risk: Insights from The 1000 Genomes Project","year":2018,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":65,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Manitoba","funders":"National Human Genome Research Institute; National Institutes of Health; University of Manitoba","keywords":"Biology; Haplotype; Genetics; Disease; Confounding; 1000 Genomes Project; Genome; Exome; Gene; Phenotype; Mendelian inheritance; Population; Allele; Exome sequencing; Single-nucleotide polymorphism; Genotype; Medicine; Internal medicine; Environmental health","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":[0.001292466,0.000462996,0.0005410018,0.001814059,0.0003253028,0.0007786003,0.000404803,0.0007919053,0.002124822],"category_scores_gemma":[0.006450473,0.0002497073,0.0007743554,0.003934824,0.0003638944,0.0004648113,0.001074977,0.0009770525,0.0001550428],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002133832,"about_ca_system_score_gemma":0.0003020283,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006454001,"about_ca_topic_score_gemma":0.005862753,"domain_scores_codex":[0.9991013,0.0003927675,0.00008117044,0.00022698,0.0001255603,0.00007219682],"domain_scores_gemma":[0.9977585,0.001147107,0.0005488621,0.000153664,0.0001284186,0.0002633418],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002177437,0.00002394634,0.986968,0.00006330452,0.0009593862,0.0001765175,0.0001142246,0.000559026,0.0007010677,0.0003505922,0.0006021921,0.009263919],"study_design_scores_gemma":[0.00001199172,0.00003254482,0.9962412,0.0000196987,0.0003012251,0.0003780392,0.0001107281,0.0008598309,0.00007903344,0.001181709,0.0007746353,0.000009389943],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9840218,0.004346137,0.001606648,0.001399242,0.00002233695,0.0000115038,0.007714859,0.00002972731,0.0008478102],"genre_scores_gemma":[0.9931121,0.002177763,0.001186427,0.000148559,0.00003788883,0.00001153507,0.003119412,0.00001510388,0.0001910502],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006454001,"threshold_uncertainty_score":0.01283282,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01620657974729433,"score_gpt":0.2560161773277755,"score_spread":0.2398095975804812,"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."}}