{"id":"W2171667994","doi":"10.1007/s10897-013-9615-1","title":"Large Normal and Intermediate Alleles in the Context of SCA2 Prenatal Diagnosis","year":2013,"lang":"en","type":"article","venue":"Journal of Genetic Counseling","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Victoria","funders":"","keywords":"Genetic counseling; Allele; Predictive testing; Genetics; Context (archaeology); Spinocerebellar ataxia; Mendelian inheritance; Prenatal diagnosis; Trinucleotide repeat expansion; Biology; Medicine; Gene; Pregnancy; Fetus","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":[0.0009237226,0.0003007457,0.0003009785,0.0009057891,0.0005841703,0.0004248465,0.000273181,0.0004308164,0.0008387196],"category_scores_gemma":[0.00395792,0.0001550357,0.0001297383,0.0003542138,0.000664497,0.0002558008,0.0005599671,0.0005317164,0.00007908697],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005123582,"about_ca_system_score_gemma":0.0005551351,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004164381,"about_ca_topic_score_gemma":0.006084442,"domain_scores_codex":[0.9992247,0.0002556695,0.00004613144,0.0001477662,0.0001839693,0.0001418234],"domain_scores_gemma":[0.9989595,0.0004794104,0.0002644434,0.00004494434,0.00009320361,0.0001583269],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007357951,0.0001135867,0.8936341,0.00004761668,0.00002297035,0.06756777,0.001648582,0.0005495699,0.00539944,0.001357467,0.0005732792,0.02834976],"study_design_scores_gemma":[0.00002969847,0.001154261,0.7266595,0.0001692866,0.0001277795,0.24986,0.003115643,0.002761607,0.00757566,0.004159393,0.004328183,0.00005887636],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967777,0.0005261532,0.0005955258,0.0002017429,0.000009625769,0.00001640569,0.00003681548,0.000009510469,0.001826452],"genre_scores_gemma":[0.998607,0.0003526433,0.0007535026,0.00005595616,0.000007850253,0.000005418734,0.00002876004,0.000003443628,0.0001855085],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004164381,"threshold_uncertainty_score":0.008280277,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01466581406447424,"score_gpt":0.2471218268491904,"score_spread":0.2324560127847161,"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."}}