{"id":"W3038990418","doi":"10.3389/fgene.2020.00578","title":"Impute.me: An Open-Source, Non-profit Tool for Using Data From Direct-to-Consumer Genetic Testing to Calculate and Interpret Polygenic Risk Scores","year":2020,"lang":"en","type":"article","venue":"Frontiers in Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":66,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"National Institute on Drug Abuse; National Institute on Aging; Lundbeckfonden; Department of Health and Social Care; National Institute of Mental Health; Medical Research Council; National Institute for Health and Care Research","keywords":"Polygenic risk score; Open source; Computer science; Profit (economics); Econometrics; Computational biology; Biology; Statistics; Genetics; Single-nucleotide polymorphism; Economics; Gene; Mathematics; Software; Genotype","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":[0.009476135,0.002992803,0.002357284,0.005703846,0.0008689219,0.004671854,0.007159612,0.003418463,0.167193],"category_scores_gemma":[0.05690345,0.002117077,0.003362037,0.005709293,0.00132834,0.004960771,0.007917446,0.003751143,0.09851021],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001295262,"about_ca_system_score_gemma":0.002392138,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003267637,"about_ca_topic_score_gemma":0.004545385,"domain_scores_codex":[0.9966189,0.0008720724,0.0003677815,0.0007471596,0.001162068,0.0002320281],"domain_scores_gemma":[0.9738224,0.01832555,0.002071857,0.0032687,0.001309026,0.001202507],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.002698404,0.0002147929,0.01158161,0.002917502,0.001043471,0.001060429,0.0005787039,0.002365666,0.002163617,0.008888277,0.8697619,0.09672572],"study_design_scores_gemma":[0.003476969,0.0004357319,0.02171771,0.001812342,0.000524045,0.00180864,0.0003484163,0.03719758,0.007970202,0.08025268,0.8437091,0.0007466729],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"software","genre_gemma":"software","genre_scores_codex":[0.003930874,0.001850594,0.08956893,0.002643878,0.0008227847,0.0006756479,0.3496218,0.5350434,0.01584216],"genre_scores_gemma":[0.06329376,0.003265275,0.2049094,0.006509418,0.001095079,0.004029678,0.4762974,0.2174874,0.02311262],"genre_candidate":"software","genre_consensus":"software","teacher_disagreement_score":0.167193,"threshold_uncertainty_score":0.5593162,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04404591021138038,"score_gpt":0.3120847336595815,"score_spread":0.2680388234482011,"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."}}