{"id":"W2059692811","doi":"10.1002/ajmg.a.35508","title":"Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability","year":2012,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University Medical Centre; McMaster University","funders":"","keywords":"Microcephaly; Comparative genomic hybridization; Phenotype; Genetics; Intellectual disability; Biology; Microdeletion syndrome; Karyotype; Anatomy; Gene; Genome; Chromosome","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":[0.0001016173,0.001322743,0.0005391306,0.0008249823,0.0003875903,0.0003426386,0.0003110859,0.0007069039,0.001825732],"category_scores_gemma":[0.0007643955,0.0003371673,0.0002844393,0.0004560233,0.000855198,0.0002216948,0.000627166,0.0006945104,0.0002785375],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000227626,"about_ca_system_score_gemma":0.0002324742,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006063782,"about_ca_topic_score_gemma":0.0008104997,"domain_scores_codex":[0.999777,0.0000190313,0.00001849846,0.00009429414,0.00004708755,0.00004416204],"domain_scores_gemma":[0.9996545,0.0001102008,0.0001120624,0.00001702375,0.00001135047,0.00009491174],"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":[0.0008503963,0.0002747834,0.1288261,0.0001574842,0.0001973014,0.5454577,0.001018672,0.0006226313,0.2942629,0.001273992,0.001120556,0.02593754],"study_design_scores_gemma":[0.0001110799,0.0004192007,0.1848987,0.00002938679,0.0001663388,0.7913262,0.0001620178,0.000683615,0.01956633,0.0003194669,0.002287045,0.00003064545],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972271,0.0004813652,0.001162411,0.0001112909,0.00002100853,0.0000157856,0.0001199971,0.00005871117,0.0008022268],"genre_scores_gemma":[0.9977915,0.0003157979,0.0009728699,0.00005504529,0.0000535637,0.00001823728,0.0001447179,0.00001347097,0.000634826],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001825732,"threshold_uncertainty_score":0.006107628,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006651680750564453,"score_gpt":0.235580628285725,"score_spread":0.2289289475351605,"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."}}