{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002748566,0.004174643,0.001605961,0.003523166,0.001192356,0.0009021233,0.002295595,0.00228761,0.03248207],"category_scores_gemma":[0.005625043,0.003332069,0.00153846,0.001857953,0.001058877,0.001596699,0.001984649,0.004066324,0.05195463],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005700945,"about_ca_system_score_gemma":0.001530384,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004343818,"about_ca_topic_score_gemma":0.00109366,"domain_scores_codex":[0.9940457,0.001921318,0.0006505803,0.001277155,0.001627284,0.0004779181],"domain_scores_gemma":[0.9975883,0.0008444149,0.0002143244,0.0006363242,0.0005620685,0.0001546333],"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":[0.0002739563,0.0003483558,0.000568838,0.0009892264,0.00003845588,0.0002789427,0.0002847866,0.0005031623,0.9342103,0.003409056,0.01632612,0.04276876],"study_design_scores_gemma":[0.0002075101,0.001413334,0.004015876,0.0004570145,0.0001230135,0.00226599,0.0001253289,0.006171596,0.8345446,0.003554331,0.1468521,0.0002693539],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.02364344,0.002670852,0.9281567,0.000583266,0.0008122554,0.0110061,0.008700709,0.01088312,0.01354364],"genre_scores_gemma":[0.04871514,0.005606802,0.8319004,0.001029154,0.0003454608,0.03793673,0.03808451,0.002503827,0.03387798],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.03248207,"threshold_uncertainty_score":0.1086633,"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."}}