{"id":"W2077016335","doi":"10.1038/ng.279","title":"Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities","year":2008,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":635,"is_retracted":false,"has_abstract":false,"ca_institutions":"North York General Hospital; Children's Hospital of Eastern Ontario","funders":"National Heart, Lung, and Blood Institute","keywords":"Macrocephaly; Microcephaly; Biology; Penetrance; Genetics; Proband; Non-allelic homologous recombination; Copy-number variation; Speech delay; Locus (genetics); Comparative genomic hybridization; Developmental disorder; Phenotype; Chromosome; Autism; Gene; Genome; Medicine; Mutation","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":[0.00006221815,0.0001857683,0.0001400014,0.00004441068,0.0003612613,0.000039052,0.00007586853,0.0002809628,0.00001573159],"category_scores_gemma":[0.00002737328,0.0001558768,0.00001955111,0.00008782159,0.0002378248,0.000007909023,0.0001118396,0.0001859119,0.000001068966],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000222176,"about_ca_system_score_gemma":0.0001462936,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001202795,"about_ca_topic_score_gemma":0.0002576207,"domain_scores_codex":[0.9991429,0.00002655787,0.0001848427,0.0003225927,0.0001063223,0.0002167204],"domain_scores_gemma":[0.9995563,0.00001674685,0.00006739883,0.0001147646,0.0001356051,0.0001091952],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007421303,0.0008461828,0.8820627,0.0001617053,0.0006458727,0.00007338888,0.007119588,0.00001964288,0.08654734,0.0006400185,0.008984038,0.01215739],"study_design_scores_gemma":[0.003459012,0.00209562,0.84927,0.00009573276,0.0003132496,0.004393345,0.003064629,0.0000662537,0.06268158,0.0001333151,0.07303182,0.001395408],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994767,0.004418998,0.00007307781,0.0001185076,0.00004083793,0.0001730445,0.0001513879,0.00001493113,0.0002422903],"genre_scores_gemma":[0.9898362,0.002608824,0.005587856,0.0001765561,0.00007086169,0.00003426881,0.0002638096,0.00002058337,0.001401039],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06404778,"threshold_uncertainty_score":0.635647,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01448233126887195,"score_gpt":0.2484181549572655,"score_spread":0.2339358236883935,"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."}}