{"id":"W2023767508","doi":"10.1186/s12920-014-0070-0","title":"SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay","year":2014,"lang":"en","type":"article","venue":"BMC Medical Genomics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Heart Institute; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Uniparental disomy; SNP array; Copy-number variation; Biology; Genetics; SNP; Genotyping; Comparative genomic hybridization; Loss of heterozygosity; Copy number analysis; SNP genotyping; Single-nucleotide polymorphism; Human genetics; Cytogenetics; Human genome; Molecular Inversion Probe; Karyotype; Genotype; Genome; Chromosome; Gene; Allele","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":[0.000297345,0.0001430898,0.0001736636,0.00003297372,0.00007852554,0.00002080629,0.000221749,0.0001621554,0.00003016436],"category_scores_gemma":[0.0003516701,0.000118558,0.00004649659,0.00003987931,0.00005793801,0.000004096382,0.00009285252,0.00009213054,0.000008632584],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004025287,"about_ca_system_score_gemma":0.0003340147,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000420716,"about_ca_topic_score_gemma":0.001214407,"domain_scores_codex":[0.9990544,0.00001664977,0.0002600072,0.0002545784,0.0001316765,0.0002826452],"domain_scores_gemma":[0.99953,0.0001042886,0.00006049926,0.0001428102,0.00002564928,0.0001368082],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001586418,0.0001219681,0.9912129,0.00005489201,0.0001225799,0.000003224635,0.0002477265,0.002346117,0.001106934,0.001926404,0.0003378338,0.002360791],"study_design_scores_gemma":[0.02158524,0.002469786,0.866298,0.0003625756,0.0002008829,0.002586018,0.001823171,0.02579255,0.03137136,0.002780926,0.04173353,0.002995925],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8979516,0.00005618823,0.1012272,0.00002446098,0.00006257249,0.0002478101,0.00001334869,0.000007478389,0.0004093354],"genre_scores_gemma":[0.9798366,0.00004737754,0.01909816,0.0002576339,0.0002989741,0.00007840597,0.0002729095,0.00002153251,0.00008834208],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1249149,"threshold_uncertainty_score":0.4834653,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01925843943002886,"score_gpt":0.2225081085582337,"score_spread":0.2032496691282048,"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."}}