{"id":"W2326403029","doi":"10.1038/nbt.3514","title":"Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases","year":2016,"lang":"en","type":"article","venue":"Nature Biotechnology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":320,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ontario Institute for Cancer Research","funders":"","keywords":"Mendelian inheritance; Penetrance; Disease; Genetics; Biology; Identification (biology); Penetrant (biochemical); Gene; Genome; Medicine; Phenotype; Pathology","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008427507,0.0002056256,0.000333702,0.0005958247,0.00006729618,0.00001379025,0.0005117889,0.0008048314,0.00006488592],"category_scores_gemma":[0.0002431279,0.0001453263,0.000260769,0.0006157824,0.0001461228,0.000003747473,0.0003760245,0.0001230675,0.00001341378],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000215081,"about_ca_system_score_gemma":0.00007910385,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000816821,"about_ca_topic_score_gemma":0.00007091527,"domain_scores_codex":[0.9986173,0.0000358783,0.0002786191,0.0005923281,0.0001677526,0.0003081514],"domain_scores_gemma":[0.9988374,0.00001999586,0.0001351018,0.0007732482,0.0001095556,0.0001246954],"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":[0.0001104778,0.0003369849,0.04646762,0.00002425105,0.0029453,0.00001486595,0.00006682214,0.00006516919,0.9129667,0.001552448,0.01004555,0.02540386],"study_design_scores_gemma":[0.0008890087,0.0004749977,0.2666081,0.00003785913,0.001288825,0.00001797898,0.0002492619,0.000003320341,0.6123385,0.0008210664,0.1166265,0.0006445632],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9865499,0.008254189,0.0001623125,0.003132319,0.0001739089,0.0002143956,0.001381831,0.00004164917,0.00008951878],"genre_scores_gemma":[0.9975372,0.0009581185,0.0003303438,0.0005002814,0.00007689917,0.00001977449,0.0002098691,0.00002040402,0.000347129],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3006281,"threshold_uncertainty_score":0.6207597,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.002740527233638351,"score_gpt":0.2290719746524302,"score_spread":0.2263314474187918,"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."}}