{"id":"W2253119257","doi":"10.1136/jmedgenet-2015-103399","title":"Identification of a pathogenic <i>FTO</i> mutation by next-generation sequencing in a newborn with growth retardation and developmental delay","year":2015,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":60,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; Children's Hospital of Eastern Ontario","funders":"University of Oxford; Institute of Genetics; Cancer Research UK; Wellcome Trust","keywords":"Missense mutation; Mutation; Biology; Genetics; Global developmental delay; Loss function; Failure to thrive; Endocrinology; Internal medicine; Gene; Medicine; Phenotype","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":[0.0005658029,0.00006977391,0.000105572,0.00005262401,0.00001697355,0.00001959784,0.00009132666,0.0000962485,0.00000265203],"category_scores_gemma":[0.0002312931,0.00005763738,0.00002292662,0.00007419451,0.00004565279,0.000009461422,0.00002526229,0.00006720282,3.631517e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004716722,"about_ca_system_score_gemma":0.0006543061,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001002716,"about_ca_topic_score_gemma":0.00004263129,"domain_scores_codex":[0.9989506,0.00005918775,0.0004197356,0.0001067789,0.000384951,0.00007876787],"domain_scores_gemma":[0.9992905,0.000007776648,0.0002628129,0.0000529797,0.0002432768,0.0001426381],"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":[0.0001051593,0.00005378971,0.00396938,0.00002082895,0.00003727492,0.00004037065,0.0003248756,0.0003974109,0.9852416,0.000007872586,0.0009208868,0.008880531],"study_design_scores_gemma":[0.007547589,0.002501088,0.009831763,0.0002187713,0.0002283715,0.003765908,0.004152508,0.02480543,0.9419083,0.0004360842,0.00401552,0.0005886574],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9862137,0.002365986,0.01113888,0.0001329018,0.00005985141,0.00006838249,0.000007617194,7.656761e-7,0.00001188871],"genre_scores_gemma":[0.995216,0.001169295,0.003324787,0.00009420998,0.000105161,0.000001936725,0.00007221395,0.000008234821,0.000008161024],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04333331,"threshold_uncertainty_score":0.2350384,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02568613008095835,"score_gpt":0.2466702172908146,"score_spread":0.2209840872098563,"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."}}