{"id":"W4401948458","doi":"10.1101/2024.08.27.24312158","title":"Genetic modifiers and ascertainment drive variable expressivity of complex disorders","year":2024,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"Manchester Biomedical Research Centre; Huck Institutes of the Life Sciences; US-UK Fulbright Commission; National Institute for Health and Care Research; Agencia Nacional de Investigación e Innovación; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; National Institutes of Health; National Science Foundation","keywords":"Genetics; Biology; Expressivity; Proband; Context (archaeology); Disease; Population; Computational biology; Gene; Evolutionary biology; Medicine; Mutation","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":[0.003372312,0.0003724092,0.0005899367,0.0009744169,0.0003037995,0.001133312,0.000504398,0.0004440332,0.002021686],"category_scores_gemma":[0.01280557,0.0002473781,0.000528974,0.0009748432,0.0008855209,0.000414158,0.001133261,0.0009031636,0.0001935536],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002331863,"about_ca_system_score_gemma":0.0002168987,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001451336,"about_ca_topic_score_gemma":0.001486152,"domain_scores_codex":[0.9970025,0.001249338,0.0002441481,0.0009240461,0.0003934491,0.0001865109],"domain_scores_gemma":[0.987212,0.007396668,0.002814847,0.00201887,0.0002545903,0.0003029382],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005893953,0.0000240375,0.9673674,0.00005619147,0.0007093536,0.000799177,0.0004346665,0.000949244,0.0151995,0.0008917514,0.000329197,0.01265008],"study_design_scores_gemma":[0.00002534322,0.00006878404,0.989302,0.00002787613,0.0003607658,0.001710681,0.0001098391,0.001370187,0.003830421,0.002368649,0.0008065757,0.0000189886],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947742,0.0007250824,0.002927617,0.0001818408,0.00001340077,0.000008435144,0.000704208,0.0000257231,0.0006395008],"genre_scores_gemma":[0.9985021,0.0001473623,0.0008708686,0.00003959109,0.00002096114,0.000005950827,0.000279847,0.00002275267,0.000110631],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003372312,"threshold_uncertainty_score":0.01783472,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009687542149612786,"score_gpt":0.2403449078142274,"score_spread":0.2306573656646146,"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."}}