{"id":"W4307523482","doi":"10.1101/2022.10.21.22281361","title":"Potential Misrepresentation of Inherited Breast Cancer Risk by Common Germline Alleles","year":2022,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"Medical Research Council; St. Jude Children's Research Hospital","keywords":"Haplotype; Breast cancer; Genetics; Allele; Odds ratio; Biology; Case-control study; Single-nucleotide polymorphism; Cancer; Genotype; Internal medicine; Medicine; Gene","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":[0.002920641,0.0002744369,0.0006309926,0.001735115,0.0003143819,0.0008501626,0.0005797407,0.0003404896,0.001845237],"category_scores_gemma":[0.01256644,0.0002489653,0.0004242979,0.001498775,0.0007405762,0.000372783,0.001081378,0.0004125068,0.0002120768],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001703585,"about_ca_system_score_gemma":0.0001830432,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001398578,"about_ca_topic_score_gemma":0.001924752,"domain_scores_codex":[0.9970083,0.00129923,0.0002328873,0.00062283,0.0006293808,0.0002075084],"domain_scores_gemma":[0.9851329,0.009735228,0.002428333,0.001921342,0.000466133,0.0003159865],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006995482,0.00004805758,0.9318083,0.0000866788,0.0004620937,0.0008843629,0.000415876,0.002300653,0.03866435,0.0007874881,0.0001785927,0.02366387],"study_design_scores_gemma":[0.00005671439,0.0002214883,0.95542,0.00002835969,0.0002512025,0.003785879,0.0003512941,0.02345856,0.01144307,0.004234877,0.0007164794,0.00003216662],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9868566,0.0001850601,0.01227343,0.00004136797,0.000006043539,0.000009068863,0.0001244084,0.0000528999,0.0004511035],"genre_scores_gemma":[0.9978393,0.00001792873,0.001982112,0.0000157969,0.000004800355,0.000003092953,0.00007465036,0.000009132019,0.00005313096],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002920641,"threshold_uncertainty_score":0.01544601,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01056890843330644,"score_gpt":0.2926922323281372,"score_spread":0.2821233238948307,"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."}}