{"id":"W1907116883","doi":"10.1111/j.1469-1809.2011.00641.x","title":"Investigation of the HIN200 Locus in UK SLE Families Identifies Novel Copy Number Variants","year":2011,"lang":"en","type":"article","venue":"Annals of Human Genetics","topic":"Systemic Lupus Erythematosus Research","field":"Medicine","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Center for Research Resources; National Institute of General Medical Sciences; National Human Genome Research Institute; Canadian Institutes of Health Research; Versus Arthritis; Broad Institute; Wellcome Trust","keywords":"Locus (genetics); Single-nucleotide polymorphism; Genetics; Biology; Copy-number variation; International HapMap Project; Genome-wide association study; Candidate gene; SNP; Genetic association; Disease; Gene; Genotype; Medicine; Genome; Internal medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003347177,0.0003315115,0.0003430868,0.00101596,0.000453184,0.0004130918,0.0002697473,0.0004650918,0.003302694],"category_scores_gemma":[0.002610391,0.0001862231,0.0002452441,0.0009661291,0.000284349,0.0001446082,0.0003697926,0.0002520663,0.0002804679],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002890911,"about_ca_system_score_gemma":0.0001680306,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004890882,"about_ca_topic_score_gemma":0.006440748,"domain_scores_codex":[0.9995564,0.0001318063,0.00003838572,0.0001209698,0.00009007041,0.00006234165],"domain_scores_gemma":[0.9990647,0.0004624238,0.0002566421,0.00006857871,0.00006545192,0.00008215276],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001263888,0.00007906936,0.9289394,0.00008106913,0.0001571182,0.006902717,0.001655001,0.0004757566,0.03766268,0.0004510079,0.0005412987,0.021791],"study_design_scores_gemma":[0.00006866332,0.0002829796,0.9864293,0.00002569292,0.00006882544,0.007990275,0.0002686176,0.0005424802,0.002904424,0.0001389923,0.001265714,0.00001405696],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990019,0.0001626515,0.0002786714,0.00003485331,0.000002339834,0.000006346442,0.00014618,0.000007604408,0.000359362],"genre_scores_gemma":[0.9991068,0.00008789196,0.0003523805,0.00002531083,0.000005530031,0.000008137958,0.0001271766,0.000003713402,0.0002830482],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004890882,"threshold_uncertainty_score":0.01104861,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1632901920477257,"score_gpt":0.3574459141345321,"score_spread":0.1941557220868063,"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."}}