{"id":"W4328049751","doi":"10.1002/ajmg.a.63175","title":"De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type <scp>III</scp>)","year":2023,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Sinai Hospital; SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Dysplasia; Medicine; Pathology","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001092838,0.0001511832,0.0003226337,0.0001113482,0.00005778935,0.00001078177,0.0004064293,0.0002245186,0.00001636929],"category_scores_gemma":[0.0006796123,0.0001105307,0.0001330596,0.0004782755,0.0007430919,0.000002951108,0.000206096,0.0003492516,0.00001646876],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003586414,"about_ca_system_score_gemma":0.0003511534,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000267179,"about_ca_topic_score_gemma":0.00003959181,"domain_scores_codex":[0.997907,0.000423,0.0004707833,0.0002291266,0.0005779394,0.0003921424],"domain_scores_gemma":[0.9988321,0.0002067545,0.0003083723,0.00026351,0.0001712699,0.0002179923],"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":[0.001817543,0.0005389164,0.1367927,0.0000733249,0.0009096875,0.00493823,0.00311348,0.0005984915,0.7322959,0.00006366537,0.02730544,0.09155259],"study_design_scores_gemma":[0.009089794,0.01260883,0.3768718,0.0004646092,0.0003140409,0.03789311,0.01040242,0.003308044,0.353354,0.0002581473,0.1946974,0.0007378588],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973501,0.0006379871,0.0002881483,0.001302963,0.0001615416,0.0001154203,0.000009904256,0.0000043133,0.0001296299],"genre_scores_gemma":[0.9960017,0.002861112,0.00007259203,0.0003205902,0.0002622744,0.000006358754,0.00004041057,0.00002113093,0.0004138923],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.378942,"threshold_uncertainty_score":0.4507313,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0152850433764775,"score_gpt":0.2920608383708078,"score_spread":0.2767757949943302,"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."}}