{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003924406,0.0001080268,0.0002383638,0.00004425821,0.0001127717,0.00003124739,0.00047144,0.00006899406,0.00003181726],"category_scores_gemma":[0.0001444013,0.00007704664,0.00007012123,0.00004683093,0.0005049506,0.000006735821,0.00008802382,0.000110213,0.000002260504],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001831728,"about_ca_system_score_gemma":0.0004770713,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000484439,"about_ca_topic_score_gemma":0.00004807538,"domain_scores_codex":[0.9988896,0.00005008604,0.0004040992,0.0001403003,0.000359327,0.0001565626],"domain_scores_gemma":[0.9984255,0.0000151186,0.0007939205,0.0003755074,0.0002568433,0.0001331326],"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":[0.0006510642,0.0001810105,0.02933444,0.00006914644,0.0003597581,0.00003583877,0.001022406,0.0004063622,0.9072907,0.00009505625,0.001613764,0.05894044],"study_design_scores_gemma":[0.004031689,0.01059583,0.07338908,0.0006233907,0.0003351195,0.002210753,0.0101059,0.0003504253,0.710566,0.000147875,0.1868035,0.0008404572],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946649,0.000342019,0.003796947,0.0009207454,0.00009991702,0.00005312923,0.00001346561,0.000001711841,0.0001071358],"genre_scores_gemma":[0.9935482,0.00143725,0.004342732,0.0001471533,0.0003164574,0.000003157415,0.00001241742,0.00001361608,0.0001790151],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1967247,"threshold_uncertainty_score":0.314187,"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."}}