{"id":"W4307348957","doi":"10.1101/2022.10.21.22281360","title":"Genome-wide Analysis of Rare Haplotypes Associated with Breast Cancer Risk: Discovery, Replication, and Generalizability Evaluation","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":"National Cancer Institute; Medical Research Council; American Lebanese Syrian Associated Charities; Alberta Machine Intelligence Institute; St. Jude Children's Research Hospital","keywords":"Haplotype; Breast cancer; Biology; Genetics; Imputation (statistics); Odds ratio; Heritability; Genotype; 1000 Genomes Project; Generalizability theory; Population; Multiple comparisons problem; Oncology; Single-nucleotide polymorphism; Cancer; Medicine; Internal medicine; Gene; Missing data; Psychology","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":[0.03319522,0.0005970772,0.0007632351,0.0008961842,0.001006468,0.0009783113,0.001020272,0.000672191,0.002583382],"category_scores_gemma":[0.04390648,0.0004768912,0.001755551,0.001395918,0.001079542,0.0004546198,0.0009831805,0.001031997,0.000320957],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000237711,"about_ca_system_score_gemma":0.0006361752,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004410226,"about_ca_topic_score_gemma":0.003687555,"domain_scores_codex":[0.9872781,0.008944195,0.000638618,0.001911319,0.0008102892,0.0004174014],"domain_scores_gemma":[0.9583004,0.02041146,0.00308526,0.01525094,0.002322092,0.0006298309],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002932067,0.0003128666,0.9557451,0.0001889207,0.004806111,0.0007311465,0.001010686,0.001254558,0.01436626,0.0004561315,0.0009408853,0.01725534],"study_design_scores_gemma":[0.0006406484,0.00149007,0.9833572,0.00003466363,0.003071463,0.0009113089,0.0003704918,0.003930734,0.00323438,0.0009148634,0.002005894,0.00003829713],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9816303,0.0006467542,0.01471663,0.0001611617,0.00004819692,0.0003064908,0.001489525,0.00008966546,0.0009111841],"genre_scores_gemma":[0.9951395,0.00006269576,0.003550675,0.00006312437,0.0000255929,0.000157228,0.0008016242,0.00003787865,0.0001616338],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03319522,"threshold_uncertainty_score":0.1755552,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01891514361873611,"score_gpt":0.2942672232695259,"score_spread":0.2753520796507898,"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."}}