{"id":"W2153442905","doi":"10.1186/s13073-014-0096-0","title":"Design, methods, and participant characteristics of the Impact of Personal Genomics (PGen) Study, a prospective cohort study of direct-to-consumer personal genomic testing customers","year":2014,"lang":"en","type":"article","venue":"Genome Medicine","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":48,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Human Genome Research Institute; Canadian Institutes of Health Research; National Center for Research Resources; School of Public Health, University of Michigan; Johns Hopkins University; Brigham and Women's Hospital; University of Minnesota; National Institutes of Health","keywords":"Personal genomics; Genomics; Human genetics; Medicine; Cohort study; Genetics; Internal medicine; Biology; Genome","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001693107,0.0002192045,0.0006161129,0.00009708792,0.00008232144,0.000004366651,0.0002256187,0.00006109262,0.00001995436],"category_scores_gemma":[0.0007124341,0.00015173,0.00006787228,0.0002688946,0.0003182142,0.000002945782,0.0001897825,0.0001093537,6.124419e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001127297,"about_ca_system_score_gemma":0.0002985412,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003678245,"about_ca_topic_score_gemma":0.00002190135,"domain_scores_codex":[0.9981154,0.0004067763,0.0005829433,0.0004219203,0.0002334295,0.0002395123],"domain_scores_gemma":[0.9985924,0.0001368792,0.0004405655,0.0003869605,0.0003429183,0.00010026],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001606193,0.000229395,0.4352627,0.00002267736,0.0005544423,4.111552e-7,0.01196261,0.0002683386,0.5500193,3.250963e-7,0.00001262205,0.001506635],"study_design_scores_gemma":[0.001338179,0.00406028,0.9777373,0.00002112414,0.0004924225,0.00001032171,0.00431196,0.000746716,0.01107213,0.000004808488,0.00004523718,0.0001595105],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963675,0.000553571,0.001205871,0.00002145145,0.0001033839,0.001615747,0.00003885617,0.000004181189,0.00008949392],"genre_scores_gemma":[0.9975851,0.00002319774,0.002052407,0.00002256286,0.0001385513,0.0001003202,0.000007858397,0.00003118095,0.00003880914],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5424746,"threshold_uncertainty_score":0.6187369,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03967642849955205,"score_gpt":0.3430130584539373,"score_spread":0.3033366299543853,"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."}}