{"id":"W3117129373","doi":"10.21203/rs.2.22066/v1","title":"Whole Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth","year":2020,"lang":"en","type":"preprint","venue":"","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Simon Fraser University","funders":"","keywords":"Exome sequencing; Short stature; Idiopathic short stature; Exome; Genetics; Mutation; Medicine; Biology; Pediatrics; Growth hormone; Endocrinology; Gene","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":[0.0004290704,0.0004918714,0.0003109874,0.0006654997,0.0002759731,0.0004866855,0.0001761554,0.000967354,0.005860317],"category_scores_gemma":[0.001346398,0.0001316529,0.0002266957,0.0004209647,0.000265201,0.0002256895,0.000362862,0.0004125204,0.001238409],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002027651,"about_ca_system_score_gemma":0.0001793223,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00051444,"about_ca_topic_score_gemma":0.0008664936,"domain_scores_codex":[0.9997236,0.00005088762,0.0000369855,0.00006956614,0.00008302301,0.00003590739],"domain_scores_gemma":[0.9994186,0.0003625885,0.00006633922,0.00003001428,0.00005734997,0.0000651864],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002064293,0.0002467484,0.2607361,0.001348034,0.0004448081,0.1332292,0.001948918,0.004739227,0.3720222,0.003870806,0.03895466,0.1803951],"study_design_scores_gemma":[0.0001755989,0.0004836236,0.5709541,0.0004368034,0.0002627804,0.2165612,0.0007379507,0.009843868,0.1335457,0.005022705,0.06188797,0.00008773655],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9752144,0.002743063,0.008481115,0.001380716,0.0003546836,0.00003935141,0.00576277,0.0003946545,0.005629244],"genre_scores_gemma":[0.9705008,0.001605486,0.01318601,0.0006462145,0.0002403811,0.00003352035,0.006281312,0.0002436539,0.007262523],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005860317,"threshold_uncertainty_score":0.01960474,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02079486879453134,"score_gpt":0.2611846520432884,"score_spread":0.240389783248757,"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."}}