{"id":"W2610593425","doi":"10.1002/ajmg.a.38247","title":"Whole exome sequencing of families with 1q21.1 microdeletion or microduplication","year":2017,"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":"St. Michael's Hospital; BC Children's Hospital; University Health Network; University of British Columbia; University of British Columbia Hospital","funders":"Canadian Institutes of Health Research; Michael Smith Health Research BC","keywords":"Proband; Exome sequencing; Genetics; Biology; Phenotype; Copy-number variation; Gene duplication; Gene; Exome; Genetic heterogeneity; In silico; Non-Mendelian inheritance; Mutation; Genome","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002491009,0.0004778092,0.000376215,0.00125448,0.0003677755,0.0003062478,0.0002590841,0.0005830011,0.00154006],"category_scores_gemma":[0.0009675634,0.0001621732,0.0004058639,0.0007771549,0.0001485844,0.0001342918,0.0004078872,0.0002634585,0.000266437],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000178244,"about_ca_system_score_gemma":0.0001201619,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001409319,"about_ca_topic_score_gemma":0.001719764,"domain_scores_codex":[0.9997227,0.00003206893,0.00002615798,0.0001159526,0.00006649865,0.00003674099],"domain_scores_gemma":[0.9997297,0.0001309553,0.00005124705,0.00002527435,0.00002799406,0.00003479654],"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":[0.001211208,0.0001684195,0.1438876,0.0004312084,0.0005603039,0.06877795,0.001563918,0.002202422,0.7013662,0.000446844,0.003221609,0.07616241],"study_design_scores_gemma":[0.0001030801,0.0003482221,0.8609728,0.0000900252,0.0004771752,0.06894521,0.0003365515,0.004084091,0.05192112,0.0005224342,0.01214926,0.00005007728],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942185,0.0006846577,0.001951706,0.00007509829,0.00001644349,0.00003061501,0.002515447,0.00005359438,0.0004539844],"genre_scores_gemma":[0.9876693,0.0008449017,0.003641921,0.0001397339,0.00002465243,0.00006062806,0.0065724,0.00004632495,0.001000223],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00154006,"threshold_uncertainty_score":0.005152047,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01523726697670768,"score_gpt":0.2699327611747451,"score_spread":0.2546954941980374,"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."}}