{"id":"W2094416405","doi":"10.1186/1471-2164-8-443","title":"X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation","year":2007,"lang":"en","type":"article","venue":"BMC Genomics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":64,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Departament d'Universitats, Recerca i Societat de la Informació; Generalitat de Catalunya; Instituto de Salud Carlos III; Genome Canada","keywords":"Copy-number variation; Biology; Comparative genomic hybridization; Genetics; Chromosome; Gene duplication; X chromosome; Phenotype; Gene dosage; Karyotype; Gene; Genome","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001536207,0.0001453187,0.0001318583,0.00004641764,0.00004509705,0.000009594194,0.0001018539,0.0001078045,0.00001015798],"category_scores_gemma":[0.00001472373,0.0001480007,0.00003796957,0.0001070308,0.00003899136,0.000005535459,0.00004250505,0.00006485427,0.000007766311],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005180967,"about_ca_system_score_gemma":0.00006493544,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001481921,"about_ca_topic_score_gemma":0.000267687,"domain_scores_codex":[0.999027,0.0000246809,0.0002940783,0.0002967927,0.0001380813,0.000219375],"domain_scores_gemma":[0.999562,0.000005811849,0.0001331527,0.0001904074,0.00005691234,0.00005167196],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0003066396,0.0001198656,0.1707065,0.0000138942,0.00001588657,4.941364e-7,0.0001105324,0.00008860003,0.8279736,0.000001666839,0.000004160814,0.0006581668],"study_design_scores_gemma":[0.001315895,0.0002073919,0.5450593,0.00001054513,0.000007184901,0.000001818027,0.00006061796,0.00002593962,0.4528727,0.00001142717,0.0002748693,0.0001522797],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968216,0.00002742553,0.002367822,0.000003447191,0.0001561771,0.0003058065,0.00002459878,0.000005246404,0.0002878674],"genre_scores_gemma":[0.9964703,0.00004799667,0.003077304,0.00004462233,0.00002091287,0.000005501773,0.0002767065,0.00002824861,0.00002837087],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3751009,"threshold_uncertainty_score":0.6035295,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00757343744861489,"score_gpt":0.2127375033208751,"score_spread":0.2051640658722602,"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."}}