{"id":"W2049033143","doi":"10.1002/humu.10199","title":"Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus","year":2003,"lang":"en","type":"article","venue":"Human Mutation","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital","funders":"","keywords":"Biology; Exon; Genetics; Phenylalanine hydroxylase; Multiplex; Locus (genetics); Molecular biology; genomic DNA; Complementary DNA; Gene; Gene dosage; Gene duplication; Allele; Tandem exon duplication; Phenylalanine; Gene expression","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004588753,0.0004477437,0.0002449828,0.000869974,0.0001745054,0.0002846628,0.0002908169,0.0002900815,0.001160577],"category_scores_gemma":[0.000656573,0.000222706,0.0001733736,0.0003623269,0.0003032829,0.0002055305,0.0002702742,0.000414748,0.0002741264],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002232754,"about_ca_system_score_gemma":0.00008245413,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002897313,"about_ca_topic_score_gemma":0.0006002832,"domain_scores_codex":[0.9994766,0.00007674141,0.00001915049,0.0001823223,0.0001920178,0.00005308341],"domain_scores_gemma":[0.9995598,0.0001620174,0.0001214896,0.00006646055,0.00004175404,0.00004843332],"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":[0.00004792521,0.00001314164,0.000937046,0.00002236098,0.00001090873,0.00005826158,0.00003152372,0.0001118854,0.991774,0.0001503933,0.00003254878,0.006809991],"study_design_scores_gemma":[0.0000125036,0.000273715,0.0149974,0.000004200854,0.00003916509,0.001292927,0.00001652415,0.002562403,0.9787275,0.0001767139,0.001881302,0.00001554991],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8581431,0.001398155,0.1364828,0.00007525036,0.00003196841,0.00009395223,0.0007249629,0.0006214902,0.002428256],"genre_scores_gemma":[0.898666,0.0007844879,0.09680701,0.00004037491,0.00002623863,0.0001652111,0.00063303,0.00004670414,0.002831013],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001160577,"threshold_uncertainty_score":0.003882468,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02345823038783113,"score_gpt":0.2949073188092969,"score_spread":0.2714490884214658,"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."}}