{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002157099,0.0007072971,0.0003659675,0.001060201,0.0005167929,0.0003288604,0.000387311,0.0007449019,0.002351223],"category_scores_gemma":[0.001050764,0.0002964182,0.0003556525,0.0003838024,0.0007734085,0.0001750341,0.0007061993,0.0006521682,0.0002586914],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004076374,"about_ca_system_score_gemma":0.0003393233,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001387491,"about_ca_topic_score_gemma":0.001640216,"domain_scores_codex":[0.9996679,0.00003096708,0.00002710286,0.0001283099,0.00009722174,0.00004860746],"domain_scores_gemma":[0.9995639,0.0001415241,0.0001146364,0.00002324182,0.000025601,0.0001310619],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0001768791,0.00005739795,0.07439993,0.00005464876,0.00004486984,0.8748805,0.0007600914,0.0002369769,0.04364746,0.0005345375,0.0006005577,0.004606095],"study_design_scores_gemma":[0.00002458316,0.0001706911,0.1054072,0.00002067005,0.00003736378,0.88536,0.0002273754,0.0004675734,0.006799778,0.000322109,0.001143124,0.00001956975],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969699,0.0002087646,0.0007353374,0.0002427992,0.00002356067,0.0000394905,0.0003018139,0.00004965218,0.001428671],"genre_scores_gemma":[0.9984775,0.0001162648,0.0007682645,0.00007122212,0.00001808058,0.000008418561,0.00009068302,0.00001618243,0.0004333667],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002351223,"threshold_uncertainty_score":0.007865608,"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."}}