{"id":"W4281386400","doi":"10.1002/cpz1.427","title":"Triplet‐Primed PCR Assays for Accurate Screening of <i>FMR1</i> CGG Repeat Expansion and Genotype Verification","year":2022,"lang":"en","type":"article","venue":"Current Protocols","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's & Women's Health Centre of British Columbia; University of British Columbia","funders":"","keywords":"Amplicon; FMR1; Fragile X syndrome; Biology; Genetics; Melting curve analysis; Molecular biology; Multiplex ligation-dependent probe amplification; Polymerase chain reaction; Locus (genetics); High Resolution Melt; Southern blot; Capillary electrophoresis; Genotype; Allele; Gene; Exon","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":[0.0002269622,0.0001179445,0.0001218696,0.00003650039,0.0001647826,0.00001566621,0.0001533642,0.00003646478,0.00001321915],"category_scores_gemma":[0.00005411761,0.0001238836,0.00005599648,0.00007985142,0.00003413096,0.000003801603,0.0001960449,0.00007022775,4.940767e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000869221,"about_ca_system_score_gemma":0.00006685968,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000164139,"about_ca_topic_score_gemma":9.796315e-7,"domain_scores_codex":[0.9990509,0.00006321484,0.0002467075,0.0003395652,0.0001397044,0.0001599246],"domain_scores_gemma":[0.9994838,0.00000985221,0.0001556083,0.0002400455,0.00006427202,0.00004638318],"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":[0.0003541838,0.0001275706,0.0009449242,0.0001113336,0.0000134754,1.46903e-7,0.00005972538,0.00009363068,0.9561881,0.00004731849,0.001572264,0.04048733],"study_design_scores_gemma":[0.002486672,0.001079615,0.01193271,0.00003982395,0.00001775365,0.000004407851,0.0001066149,0.0004045829,0.5926245,0.0001343766,0.3908681,0.0003008191],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9043375,0.001349139,0.01893001,0.0001700744,0.0003096735,0.07440103,0.0002218481,0.00002829443,0.0002523837],"genre_scores_gemma":[0.9253325,0.0001029728,0.002121721,0.00008238236,0.0000312766,0.07169532,0.0004820421,0.0000317783,0.0001199931],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3892958,"threshold_uncertainty_score":0.5051825,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05172629544651598,"score_gpt":0.3261081886844477,"score_spread":0.2743818932379317,"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."}}