{"id":"W2995766518","doi":"10.1038/s41590-019-0549-0","title":"High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation","year":2019,"lang":"en","type":"article","venue":"Nature Immunology","topic":"Single-cell and spatial transcriptomics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":45,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia; BC Cancer Agency","funders":"Common Fund; National Institute of Allergy and Infectious Diseases; Medical Research Council; Natural Sciences and Engineering Research Council of Canada; European Commission; National Institutes of Health; Kidney Research UK; Academy of Medical Sciences; Cancer Research UK; King's College London; Genome British Columbia; International Society for Advancement of Cytometry; National Human Genome Research Institute; Wellcome Trust; Genome Canada; Francis Crick Institute; National Institute of General Medical Sciences; National Institute for Health and Care Research; Canadian Institutes of Health Research; Wellcome","keywords":"Biology; Immunophenotyping; Immune system; Genome-wide association study; Genetics; Genetic variation; Gene knockout; Immunocompetence; Gene; Genetic association; Computational biology; Genotype; Single-nucleotide polymorphism","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":[0.0003782568,0.0002284786,0.0003893649,0.0004538244,0.0002311796,0.0008135108,0.0003503184,0.0003742713,0.0007264886],"category_scores_gemma":[0.0007096005,0.0002700342,0.0003338903,0.0005195851,0.000513129,0.000449354,0.0005637312,0.0008759404,0.0002204153],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003113657,"about_ca_system_score_gemma":0.0001779055,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006691537,"about_ca_topic_score_gemma":0.002059828,"domain_scores_codex":[0.999708,0.0000415548,0.00001364935,0.0001197325,0.00007569044,0.00004133362],"domain_scores_gemma":[0.999331,0.0003728268,0.0001173052,0.0001052522,0.00003682262,0.00003677262],"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":[0.0000722358,0.00001753189,0.008560399,0.00003427755,0.00003613601,0.00008403572,0.00006388444,0.001372217,0.9797658,0.001129893,0.0001625309,0.008701241],"study_design_scores_gemma":[0.00003097221,0.0001541709,0.7017928,0.00002519488,0.0001212531,0.000946619,0.000361153,0.03110236,0.2427401,0.01426197,0.00839054,0.00007293717],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.965067,0.000669301,0.03040325,0.0002578037,0.00002449357,0.00001657686,0.001972843,0.0002479521,0.001340695],"genre_scores_gemma":[0.9866847,0.0004578877,0.0108895,0.0001944997,0.00003106411,0.00002769563,0.00104406,0.0001157832,0.0005548362],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0008135108,"threshold_uncertainty_score":0.002430379,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003289166793730199,"score_gpt":0.2101747388148835,"score_spread":0.2068855720211533,"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."}}