{"id":"W3115444894","doi":"10.1371/journal.pgen.1009190","title":"Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density","year":2020,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Bone Metabolism and Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"Sinai Health System; Lunenfeld-Tanenbaum Research Institute; University of Manitoba; University of Toronto; SickKids Foundation; Toronto Centre for Phenogenomics; Hospital for Sick Children","funders":"National Cancer Institute; National Eye Institute; Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences; Medical Research Council; PHENOMIN; Akademie Věd České Republiky; Université de Strasbourg; Institut National de la Santé et de la Recherche Médicale; Centre National de la Recherche Scientifique; Ministerstvo Školství, Mládeže a Tělovýchovy; CHIST-ERA; National Human Genome Research Institute; Wellcome Trust; Agence Nationale de la Recherche; European Regional Development Fund; European Commission; Univerzita Karlova v Praze; INFRAFRONTIER; European Bioinformatics Institute; National Institutes of Health; Ontario Genomics; Genome Canada; Wellcome","keywords":"Bone mineral; Biology; Osteoporosis; Gene; In silico; Bone remodeling; Bone density; Mutant; Candidate gene; Genetics; Endocrinology","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":[0.00006229369,0.0002269611,0.00030124,0.0000199801,0.0001283196,0.00003392342,0.0001746575,0.0001326288,0.00002185736],"category_scores_gemma":[0.0001058232,0.0002252678,0.0001367547,0.00007627803,0.00007621203,0.000003162641,0.0002578906,0.00006750447,0.00002975082],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001010531,"about_ca_system_score_gemma":0.00004599305,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003043649,"about_ca_topic_score_gemma":0.00001746541,"domain_scores_codex":[0.9986584,0.00004249325,0.0002956423,0.0004650042,0.0001963673,0.0003420962],"domain_scores_gemma":[0.9991264,0.00001185901,0.0001047187,0.0003407119,0.0001180529,0.0002982027],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002086079,0.0001092704,0.009679375,0.00004328999,0.00006046283,0.00000575123,0.00006485302,0.0004034493,0.9885696,0.000009404854,0.0004686433,0.0003773007],"study_design_scores_gemma":[0.001248026,0.00007219016,0.0009405675,0.000008073386,0.000121519,0.000009826373,0.000031623,0.004035511,0.9883001,0.00001422324,0.004895107,0.0003232713],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9876903,0.009439769,0.002004171,0.0002455899,0.00008550731,0.0002341031,0.0001556006,0.00003532539,0.0001096926],"genre_scores_gemma":[0.99337,0.0005431531,0.002770671,0.002027007,0.000862955,0.00001364276,0.0001358079,0.00004612916,0.0002306574],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008896615,"threshold_uncertainty_score":0.9186153,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02086651390938023,"score_gpt":0.2209604472281774,"score_spread":0.2000939333187972,"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."}}