{"id":"W2925811623","doi":"10.1186/s13073-019-0619-9","title":"Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium","year":2019,"lang":"en","type":"article","venue":"Genome Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":60,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"Canadian Institutes of Health Research; National Institutes of Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Invitae; Cullen Foundation; Broad Institute; National Human Genome Research Institute; Illumina; National Heart, Lung, and Blood Institute; U.S. Department of Defense","keywords":"Personal genomics; Medicine; Whole genome sequencing; DNA sequencing; Family medicine; Genomic sequencing; Genetic testing; Health care; Cohort; Genome; Genetics; Biology; Internal medicine; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002533729,0.0001329177,0.0003011631,0.00004770626,0.00004017828,0.000005192956,0.0001520535,0.00006466795,0.00004174177],"category_scores_gemma":[0.00009984209,0.00008846722,0.00004512914,0.00006758618,0.000146839,0.000002992972,0.00009971936,0.00007208477,0.000003459165],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002970004,"about_ca_system_score_gemma":0.0001960721,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000134054,"about_ca_topic_score_gemma":0.00003273826,"domain_scores_codex":[0.9989073,0.00006632102,0.0003925613,0.0002633394,0.0001369172,0.0002335523],"domain_scores_gemma":[0.9993574,0.00003123472,0.0001582644,0.0002841429,0.00007199104,0.00009698753],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006961902,0.00005263226,0.6411659,0.0001614933,0.00007659395,0.000008260914,0.001223529,0.00009752432,0.3563321,0.00007795055,0.00001408581,0.00009374788],"study_design_scores_gemma":[0.001132047,0.0006853688,0.9967437,0.00005000065,0.00003296602,0.00001379296,0.000404749,0.0000429266,0.0004779667,0.00003587633,0.0002728175,0.0001078266],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966456,0.002076888,0.00007161836,0.0004743414,0.0001579977,0.0004437353,0.00008575,0.000003389933,0.00004064192],"genre_scores_gemma":[0.9988763,0.0002502212,0.0000788752,0.0004884155,0.0001097656,0.00002048458,0.00007275274,0.00001398935,0.00008918902],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3558541,"threshold_uncertainty_score":0.3607588,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01828430128174426,"score_gpt":0.2460200179016503,"score_spread":0.227735716619906,"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."}}