{"id":"W2083312326","doi":"10.1016/j.ejmg.2005.10.133","title":"Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS)","year":2005,"lang":"en","type":"article","venue":"European Journal of Medical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; Centre for Addiction and Mental Health","funders":"Canadian Institutes of Health Research; Hospital for Sick Children; Howard Hughes Medical Institute","keywords":"Genetics; Biology; Comparative genomic hybridization; Fluorescence in situ hybridization; Loss of heterozygosity; Proband; Microsatellite; Chromosome; Haploinsufficiency; Mutation; Gene; Allele; Phenotype","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":[0.0006469333,0.0001691864,0.0003392016,0.0001885405,0.00005540148,0.00002093964,0.0004847002,0.00008018942,0.0003170865],"category_scores_gemma":[0.00007365657,0.0001340773,0.0002067038,0.0002361099,0.0001346137,0.00000754197,0.0001226705,0.0001745392,0.00001226919],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002984072,"about_ca_system_score_gemma":0.0001774101,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003685213,"about_ca_topic_score_gemma":0.00001148991,"domain_scores_codex":[0.9979516,0.0002427139,0.0007305666,0.0001870136,0.0006728022,0.0002153105],"domain_scores_gemma":[0.9986133,0.00001747857,0.0005313205,0.0002673577,0.0003266247,0.0002439052],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002037766,0.004832905,0.6400005,0.0003141855,0.02597665,0.001222716,0.004988076,0.09788531,0.09966958,0.0003983507,0.005021357,0.1176527],"study_design_scores_gemma":[0.004346009,0.003607511,0.9544649,0.000109844,0.001932283,0.0004371293,0.0003118689,0.0008239357,0.007806915,0.00001114242,0.02562005,0.0005284835],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957067,0.0007823805,0.002737466,0.0001951746,0.0001010541,0.00006565143,0.00004470396,0.000003142699,0.0003636638],"genre_scores_gemma":[0.9964463,0.0004729507,0.002334828,0.0001866468,0.0003089225,5.8735e-7,0.00008555007,0.00002881834,0.0001354665],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3144644,"threshold_uncertainty_score":0.5467514,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005164445096968841,"score_gpt":0.2059368383934798,"score_spread":0.2007723932965109,"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."}}