{"id":"W4311502129","doi":"10.1002/ajmg.a.63071","title":"Fetal akinesia deformation sequence syndrome associated with recessive <scp><i>TTN</i></scp> variants","year":2022,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; Hospital for Sick Children; University of Toronto; SickKids Foundation; Mount Sinai Hospital","funders":"National Center for Advancing Translational Sciences; National Institute of Diabetes and Digestive and Kidney Diseases","keywords":"Compound heterozygosity; Prenatal diagnosis; Genetics; Biology; Arthrogryposis; Fetus; Exome sequencing; Gene; Allele; Medicine; Phenotype; Pregnancy","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":[0.0002320147,0.001941405,0.0005294388,0.001234444,0.00102414,0.0003687661,0.0005624552,0.00090913,0.002428095],"category_scores_gemma":[0.001420927,0.0003271049,0.0006428252,0.0006235021,0.00109808,0.0002152583,0.0008100657,0.0007831272,0.0002646791],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004380345,"about_ca_system_score_gemma":0.000414773,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0057154,"about_ca_topic_score_gemma":0.005109827,"domain_scores_codex":[0.9994924,0.00008248803,0.00005932105,0.0001702407,0.0001036664,0.00009180695],"domain_scores_gemma":[0.9991597,0.0002648485,0.0002527532,0.00004514849,0.00006382509,0.0002136714],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0002278562,0.00009838575,0.09430924,0.00008856158,0.00009789888,0.8573082,0.0009822202,0.0003794612,0.03733099,0.0008025396,0.0008000075,0.007574702],"study_design_scores_gemma":[0.00003703869,0.0002260126,0.09685966,0.00003637165,0.0000995931,0.8939347,0.0002129848,0.0005583043,0.006311321,0.0002512873,0.001436301,0.00003635549],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945093,0.0005202468,0.001737741,0.0001992121,0.00004757285,0.0000412289,0.0002268148,0.00007285955,0.002645069],"genre_scores_gemma":[0.9985408,0.0001711827,0.000684829,0.00006312478,0.00003508123,0.000007242998,0.00009866098,0.00001093141,0.0003881619],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0057154,"threshold_uncertainty_score":0.01136428,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02205112398062749,"score_gpt":0.300363703490944,"score_spread":0.2783125795103165,"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."}}