{"id":"W2970263042","doi":"10.1002/mgg3.954","title":"Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes","year":2019,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Mohammed Bin Rashid University of Medicine and Health Sciences; Al Jalila Foundation","keywords":"Genetics; Biology; Gene duplication; Copy-number variation; Locus (genetics); Segmental duplication; Gene; Comparative genomic hybridization; Candidate gene; Phenotype; Microarray; Genome; Gene family","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":[0.0003400246,0.000163316,0.0002217813,0.00005834777,0.00002882216,0.00000773698,0.0001419724,0.0001179906,0.00008164347],"category_scores_gemma":[0.00005391112,0.0001462002,0.00002473013,0.0001297495,0.0001510388,0.000003540098,0.00009544402,0.00008951319,0.000002932739],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004568974,"about_ca_system_score_gemma":0.0001201375,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001547284,"about_ca_topic_score_gemma":0.00007604549,"domain_scores_codex":[0.998886,0.00006488043,0.0003233452,0.0003443782,0.0001248372,0.0002565661],"domain_scores_gemma":[0.9993729,0.00002622216,0.0001062821,0.0003444062,0.00007976584,0.00007041403],"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":[0.0001605685,0.00008410297,0.04494058,0.00007763293,0.00003742632,0.000002804171,0.0007824098,0.001127717,0.9512821,0.0008285054,0.00001389808,0.0006622921],"study_design_scores_gemma":[0.01193845,0.005639919,0.282949,0.0003383275,0.0003756784,0.0005845668,0.003225914,0.01029359,0.6513171,0.003217777,0.02863314,0.001486588],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9810231,0.001137513,0.01697169,0.000173247,0.00003981514,0.0002958811,0.00002249605,0.000004824639,0.000331406],"genre_scores_gemma":[0.9953898,0.0001906676,0.003834958,0.0002084284,0.00006785468,0.00001823036,0.0001618232,0.00002264276,0.0001056539],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.299965,"threshold_uncertainty_score":0.5961873,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004067027277257753,"score_gpt":0.2183464250589476,"score_spread":0.2142793977816899,"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."}}