{"id":"W2065213113","doi":"10.1002/ajmg.a.36969","title":"Atypical fibrodysplasia ossificans progressiva diagnosed by whole‐exome sequencing","year":2015,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Heterotopic Ossification and Related Conditions","field":"Medicine","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Canadian Institutes of Health Research; Ontario Genomics Institute; Génome Québec","keywords":"Fibrodysplasia ossificans progressiva; Medicine; Exome sequencing; Heterotopic ossification; Genetic disorder; Pediatrics; Connective Tissue Disorder; Myositis ossificans; Dermatology; Pathology; Surgery; Mutation; Genetics","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003162466,0.0007049429,0.0002904659,0.001070143,0.0003531594,0.0005130092,0.000355712,0.001087285,0.001166357],"category_scores_gemma":[0.001129596,0.0002221709,0.000304681,0.0004660959,0.0003717934,0.0003589128,0.0004897388,0.0004278155,0.0003203731],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002461206,"about_ca_system_score_gemma":0.0002159004,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007486734,"about_ca_topic_score_gemma":0.001377097,"domain_scores_codex":[0.9997434,0.00003362593,0.00003530884,0.00008558852,0.00005986717,0.00004222905],"domain_scores_gemma":[0.9996201,0.0001634496,0.0000705084,0.00003013645,0.00004906794,0.00006665639],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001986441,0.00007798224,0.06840053,0.0001307631,0.00007108901,0.7869138,0.0006166904,0.001103314,0.1185901,0.001215305,0.001280178,0.02140163],"study_design_scores_gemma":[0.00004332913,0.0001225751,0.06360102,0.0001038402,0.00009048117,0.9016258,0.0003326005,0.004178014,0.02305683,0.001097726,0.005721882,0.00002596171],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9897858,0.0009594361,0.003888014,0.0004930746,0.00003500049,0.00008238323,0.000670853,0.00007593148,0.00400945],"genre_scores_gemma":[0.9946631,0.0004645563,0.003814424,0.0001616195,0.0000259405,0.00001775851,0.0003329587,0.00001300711,0.0005066097],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001166357,"threshold_uncertainty_score":0.00390178,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04004589463167293,"score_gpt":0.3329462258570951,"score_spread":0.2929003312254221,"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."}}