{"id":"W2991237785","doi":"10.1101/861831","title":"Impute.me: an open source, non-profit tool for using data from DTC genetic testing to calculate and interpret polygenic risk scores","year":2019,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Genetic architecture; Disease; Genome-wide association study; Genetic testing; Trait; Genetic association; Quantitative trait locus; Biology; Computer science; Genetics; Medicine; Single-nucleotide polymorphism; 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":[0.01008703,0.002762433,0.002432167,0.006367368,0.0009497562,0.004829114,0.006534149,0.003294864,0.1797145],"category_scores_gemma":[0.06451046,0.002111295,0.003165564,0.005349978,0.001515836,0.004095337,0.007641346,0.004081,0.0931969],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001526377,"about_ca_system_score_gemma":0.002878401,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003156835,"about_ca_topic_score_gemma":0.004097519,"domain_scores_codex":[0.9965251,0.0009213928,0.0004363485,0.0007430195,0.001146835,0.0002272814],"domain_scores_gemma":[0.9688274,0.02211436,0.00218668,0.003715976,0.001605028,0.001550548],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002606264,0.0002175649,0.009742382,0.002883374,0.0009263514,0.001188651,0.0004944861,0.003322201,0.002457402,0.01061199,0.858115,0.1074343],"study_design_scores_gemma":[0.004359269,0.0004484509,0.0205065,0.002036267,0.0005232359,0.002094315,0.0003352701,0.0677069,0.009462092,0.08185133,0.8098221,0.0008542917],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"software","genre_gemma":"software","genre_scores_codex":[0.003601213,0.001291593,0.1084687,0.002525801,0.000889655,0.0007919251,0.2528121,0.6180008,0.01161831],"genre_scores_gemma":[0.06670014,0.002390985,0.2760657,0.005719481,0.001082049,0.004776516,0.357521,0.266271,0.01947328],"genre_candidate":"software","genre_consensus":"software","teacher_disagreement_score":0.1797145,"threshold_uncertainty_score":0.6012048,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03815238075268849,"score_gpt":0.2943504379074836,"score_spread":0.256198057154795,"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."}}