{"id":"W2216979470","doi":"10.1002/ajmg.a.37519","title":"Genotype–phenotype characterization in 13 individuals with chromosome Xp11.22 duplications","year":2015,"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":45,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa; Alberta Children's Hospital","funders":"Wellcome Trust","keywords":"Speech delay; Gene duplication; Segmental duplication; Intellectual disability; Clinodactyly; Genetics; Haploinsufficiency; Medicine; Phenotype; Psychology; Biology; Gene","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":[0.0002769317,0.0009485667,0.000733927,0.001245508,0.0007809812,0.0005164873,0.000334944,0.0006613088,0.001688728],"category_scores_gemma":[0.001896136,0.0004796451,0.0004305251,0.0007948728,0.0005749108,0.0002381615,0.0005822656,0.0004135291,0.0003032583],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002981082,"about_ca_system_score_gemma":0.0001997676,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002072154,"about_ca_topic_score_gemma":0.002269814,"domain_scores_codex":[0.9993848,0.0000858316,0.00008266957,0.0002344531,0.0001195562,0.00009267493],"domain_scores_gemma":[0.9992461,0.000287949,0.0001398491,0.0000713323,0.00007760768,0.0001770965],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007306697,0.0002086279,0.8515356,0.00006099855,0.0001551889,0.09869538,0.002677658,0.0005353311,0.02594816,0.0001369378,0.0004410062,0.01887448],"study_design_scores_gemma":[0.00005566565,0.0007716722,0.845099,0.00001584443,0.0001339174,0.1477137,0.0006056806,0.0005526954,0.003208501,0.0001343049,0.001659825,0.00004923639],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992923,0.00006704356,0.0002619705,0.00001851514,0.000003956168,0.00001104062,0.0001215185,0.00001085112,0.0002128473],"genre_scores_gemma":[0.9984424,0.00006738514,0.0006155264,0.00003671592,0.00001253631,0.00002126856,0.0003348832,0.00001403245,0.0004553554],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002072154,"threshold_uncertainty_score":0.005649328,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0115485303984637,"score_gpt":0.2490999387563487,"score_spread":0.237551408357885,"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."}}