{"id":"W2123821069","doi":"10.1002/jbmr.2706","title":"Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases","year":2015,"lang":"en","type":"article","venue":"Journal of Bone and Mineral Research","topic":"Digestive system and related health","field":"Biochemistry, Genetics and Molecular Biology","cited_by":42,"is_retracted":false,"has_abstract":true,"ca_institutions":"Structural Genomics Consortium","funders":"Seventh Framework Programme; Medical Research Council; Versus Arthritis; National Institute on Handicapped Research; Ministero dello Sviluppo Economico; Ontario Ministry of Economic Development and Innovation; Ontario Genomics Institute; National Institute for Health and Care Research; Ontario Genomics; Genome Canada; Wellcome Trust; GlaxoSmithKline; Pfizer; Eli Lilly and Company","keywords":"Missense mutation; LRP5; Sclerostin; Exon; Genetics; Phenotype; Mutation; Internal medicine; Endocrinology; Medicine; Biology; Gene; Wnt signaling pathway","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":[0.002247553,0.0001210298,0.0003643072,0.000371969,0.00006218075,0.00002365385,0.00007727494,0.0001990999,0.000007832989],"category_scores_gemma":[0.0005147942,0.00009369505,0.00008092718,0.000265086,0.0001450997,0.00001645311,0.00005257268,0.0003504627,0.00000316307],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007168372,"about_ca_system_score_gemma":0.0008347351,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007662133,"about_ca_topic_score_gemma":0.0004161315,"domain_scores_codex":[0.9979593,0.0003017688,0.0007471548,0.0001947462,0.0004533899,0.0003436108],"domain_scores_gemma":[0.9983159,0.00004891686,0.0003176345,0.0001494998,0.0009001714,0.000267837],"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":[0.001571062,0.0004746871,0.008404996,0.0002444959,0.0001288165,0.001189784,0.00039304,0.0004103724,0.9772823,0.0006066998,0.004692311,0.004601456],"study_design_scores_gemma":[0.04746687,0.0608921,0.1505694,0.003591686,0.0005115581,0.01707379,0.01787571,0.0009389323,0.628144,0.01640898,0.05394704,0.002579912],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992282,0.005938523,0.0002244495,0.0009012473,0.00009035002,0.000244437,0.00001842377,0.000002054323,0.0002985255],"genre_scores_gemma":[0.9945524,0.001277287,0.001159001,0.00002110865,0.0002236464,0.000008998572,0.00004458087,0.00001630792,0.002696681],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3491382,"threshold_uncertainty_score":0.3820773,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06284590297137413,"score_gpt":0.3487554012552384,"score_spread":0.2859094982838642,"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."}}