{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003143272,0.001562518,0.0007247708,0.001272117,0.002488644,0.001276335,0.001569158,0.001505157,0.01168328],"category_scores_gemma":[0.003841036,0.001176113,0.0005601168,0.001510959,0.0007514707,0.0008887775,0.00116235,0.00154301,0.003710835],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001250212,"about_ca_system_score_gemma":0.003182353,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01225633,"about_ca_topic_score_gemma":0.01428422,"domain_scores_codex":[0.9977381,0.000699901,0.0002080226,0.000717562,0.0003066363,0.0003297046],"domain_scores_gemma":[0.9989128,0.0001356259,0.0002295903,0.0001719431,0.0002735908,0.0002763884],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01484703,0.008766562,0.8511714,0.00099105,0.0005864144,0.002132902,0.006470462,0.0007383043,0.004243311,0.004522801,0.04301915,0.06251046],"study_design_scores_gemma":[0.005206581,0.01157431,0.8434489,0.0007639392,0.001019177,0.002672841,0.008883453,0.002637339,0.002617663,0.007432028,0.1133941,0.0003497622],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"protocol","genre_scores_codex":[0.7959982,0.001926503,0.02270135,0.002417583,0.0004688788,0.09032717,0.06740683,0.0001901976,0.01856328],"genre_scores_gemma":[0.7549728,0.0010992,0.02636481,0.003764117,0.0002265919,0.1824762,0.01418267,0.0001461204,0.0167674],"genre_candidate":"protocol","genre_consensus":null,"teacher_disagreement_score":0.01225633,"threshold_uncertainty_score":0.03908449,"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."}}