{"id":"W1549194503","doi":"10.1038/81691","title":"A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability","year":2000,"lang":"en","type":"article","venue":"Nature Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":171,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's & Women's Health Centre of British Columbia","funders":"Wellcome Trust","keywords":"Biology; Breast cancer; Penetrance; Allele; Genetics; BRCA2 Protein; Cancer; Internal medicine; Exon; Oncology; Gene; Mutation; Phenotype; Germline mutation; Medicine","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":[0.000358657,0.001792531,0.0008372375,0.002774837,0.001012293,0.0005174744,0.0009865034,0.002352538,0.007156444],"category_scores_gemma":[0.003073546,0.0004142701,0.0008914571,0.001940571,0.0007774245,0.0004065402,0.0006258785,0.001125724,0.0006969703],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002622383,"about_ca_system_score_gemma":0.0003278136,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002658647,"about_ca_topic_score_gemma":0.001917166,"domain_scores_codex":[0.9992837,0.0001312937,0.00007858605,0.0002229068,0.0001992843,0.00008416352],"domain_scores_gemma":[0.9977887,0.0009428142,0.0006500252,0.0001320537,0.0001318934,0.0003545604],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005071864,0.0005986692,0.3636306,0.0003668257,0.001036629,0.2832519,0.001598663,0.001137165,0.3083824,0.003330236,0.003897101,0.02769795],"study_design_scores_gemma":[0.0002697178,0.000856061,0.5662929,0.0001539254,0.0007035469,0.3841883,0.0005157436,0.002028331,0.03514748,0.002122115,0.007580791,0.0001410913],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9908681,0.001387315,0.00229618,0.000743954,0.0001625903,0.0000396598,0.001813458,0.0001306168,0.002558182],"genre_scores_gemma":[0.9963467,0.0002616126,0.001067984,0.0001317216,0.0001273018,0.00001904806,0.0005427575,0.00003733734,0.001465668],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007156444,"threshold_uncertainty_score":0.02394062,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003505751064878523,"score_gpt":0.2433898384845035,"score_spread":0.2398840874196249,"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."}}