{"id":"W3006877085","doi":"10.3390/genes11030239","title":"Genetic Modifiers and Rare Mendelian Disease","year":2020,"lang":"en","type":"review","venue":"Genes","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":172,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"Canadian Institutes of Health Research","keywords":"Mendelian inheritance; Disease; Biology; Genomics; Genome; Genetics; Computational biology; Identification (biology); Phenotype; Gene; Medicine","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":[0.0007126617,0.0007673593,0.001168233,0.002048915,0.000260181,0.0009750415,0.0008953626,0.001223343,0.004844416],"category_scores_gemma":[0.001112251,0.0001971931,0.0004262294,0.001695622,0.0007162225,0.0009286051,0.0007438556,0.001918881,0.002855643],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007838327,"about_ca_system_score_gemma":0.001313924,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001232287,"about_ca_topic_score_gemma":0.001694723,"domain_scores_codex":[0.9997192,0.00005597261,0.00003187143,0.00005075479,0.0001116989,0.00003057639],"domain_scores_gemma":[0.9995145,0.000299317,0.00005022969,0.00001443966,0.00008535359,0.00003623392],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00005911735,0.00003360031,0.000265498,0.010851,0.00008378393,0.0005010605,0.00006631989,0.0003046987,0.001815857,0.01346205,0.04540624,0.9271508],"study_design_scores_gemma":[0.000007363837,0.00002569479,0.0004998173,0.002236483,0.00005528147,0.001936945,0.00003423867,0.00004909419,0.0002893569,0.005506548,0.9893467,0.0000125087],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00006654749,0.9975616,0.000267193,0.0006114535,0.0002975054,0.000002786998,0.00002243243,0.00001458322,0.001156071],"genre_scores_gemma":[0.0005836458,0.9979874,0.0002164356,0.0002940272,0.0002366968,0.000003774775,0.00004121466,0.000002219484,0.0006345368],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004844416,"threshold_uncertainty_score":0.0162062,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02202013254618428,"score_gpt":0.2756598219958286,"score_spread":0.2536396894496443,"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."}}