{"id":"W2896650065","doi":"10.1101/431544","title":"GRID – Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies","year":2018,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Infection and Immunity","funders":"Medical Research Council; Great Ormond Street Hospital for Children; National Institute for Health and Care Research; University College London; Wellcome Trust","keywords":"Copy-number variation; Indel; Gene; Genomics; Genetics; Primary immunodeficiency; Immune system; Phenotype; Biology; Genetic testing; Medicine; Bioinformatics; Computational biology; Single-nucleotide polymorphism; Genotype; Genome","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":[0.000976931,0.0007290394,0.0006220277,0.001069176,0.000246436,0.0008247509,0.0004414374,0.000518509,0.003472741],"category_scores_gemma":[0.001453756,0.0002839302,0.0005268189,0.0006206281,0.000297428,0.0002429684,0.001091825,0.0006340814,0.001461274],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003308039,"about_ca_system_score_gemma":0.000486406,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001036081,"about_ca_topic_score_gemma":0.001594012,"domain_scores_codex":[0.9989827,0.0002397479,0.00008703928,0.0003468084,0.0002471602,0.00009654495],"domain_scores_gemma":[0.9991416,0.0003603444,0.0001161161,0.0001389872,0.000118497,0.0001243933],"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":[0.007395765,0.0005537123,0.3148093,0.0007265366,0.0007269788,0.003069131,0.000475688,0.01947435,0.407078,0.001905227,0.04460433,0.1991811],"study_design_scores_gemma":[0.001682328,0.002546618,0.423604,0.0002080167,0.0005651226,0.01235862,0.0003514157,0.09018834,0.3826718,0.006227056,0.07935832,0.0002384019],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8656183,0.002250453,0.0754215,0.001334013,0.0001900703,0.0007254478,0.03527234,0.01021773,0.008970078],"genre_scores_gemma":[0.8759097,0.0003377794,0.09841002,0.001053784,0.00009774124,0.0004301279,0.02136628,0.0003892384,0.002005284],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003472741,"threshold_uncertainty_score":0.01161748,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007697385707995256,"score_gpt":0.1757495520173136,"score_spread":0.1680521663093184,"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."}}