{"id":"W1982245361","doi":"10.1089/10906570050501434","title":"Apparently Unstable Normal <i>FMR1</i> Alleles in Nine Developmentally Delayed Patients: Implications for Molecular Diagnosis of the Fragile X Syndrome","year":2000,"lang":"en","type":"article","venue":"Genetic Testing","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; Janeway Children's Health and Rehabilitation Centre; North York General Hospital","funders":"","keywords":"Fragile X syndrome; FMR1; Locus (genetics); Chromosomal fragile site; Genetics; Southern blot; Biology; Allele; Fragile x; Trinucleotide repeat expansion; Gene; Cytogenetics; Chromosome","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":[0.00006919984,0.0001680566,0.0001370161,0.00003487857,0.0001120177,0.00001415125,0.000314963,0.00007062116,0.0000270627],"category_scores_gemma":[0.00009461608,0.0001563685,0.00006420766,0.000246842,0.00005716627,0.000003287382,0.0001231502,0.00005262732,0.000001918221],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001635351,"about_ca_system_score_gemma":0.00008760465,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004856416,"about_ca_topic_score_gemma":0.00007941233,"domain_scores_codex":[0.9988292,0.00003169791,0.0003772315,0.0003382294,0.0001094055,0.0003142377],"domain_scores_gemma":[0.9994492,0.00003042439,0.000100993,0.0002738312,0.00009310306,0.0000524479],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003361223,0.0003148664,0.7266935,0.00004420138,0.00004982336,0.000001104879,0.00008108524,0.01365209,0.2243421,0.00000585529,0.000748309,0.03403349],"study_design_scores_gemma":[0.0008722676,0.0002292858,0.9488131,0.00003414811,0.00001816666,0.00000892713,0.00002307544,0.0001057003,0.04669115,0.00009128474,0.002877489,0.0002354082],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980021,0.0004110403,0.0002929935,0.0001509303,0.00004229126,0.0005735711,0.00008353869,0.000007843841,0.0004357634],"genre_scores_gemma":[0.9857802,0.00009442682,0.01316139,0.0004279533,0.000005204858,0.0002975438,0.0001322748,0.00003063582,0.00007040571],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2221196,"threshold_uncertainty_score":0.6376521,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008837389635489893,"score_gpt":0.2102472649540991,"score_spread":0.2014098753186092,"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."}}