{"id":"W2294534689","doi":"10.1007/s10897-016-9940-2","title":"Family Communication and Cascade Testing for Fragile X Syndrome","year":2016,"lang":"en","type":"article","venue":"Journal of Genetic Counseling","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Center on Birth Defects and Developmental Disabilities; Centers for Disease Control and Prevention; National Society of Genetic Counselors","keywords":"Fragile X syndrome; Fragile x; Medicine; Quarter (Canadian coin); Test (biology); Developmental psychology; Psychology; Genetic testing; Carrier testing; Psychiatry; Clinical psychology; Genetics","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002014181,0.00008341396,0.0001065643,0.00003282885,0.00007523134,0.0000181387,0.0001195144,0.00005526526,0.000002422503],"category_scores_gemma":[0.0001684611,0.00006433439,0.00004416834,0.0000399008,0.00003868893,0.000003039346,0.00004129365,0.00003987573,9.110391e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007615546,"about_ca_system_score_gemma":0.00009175383,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001607664,"about_ca_topic_score_gemma":0.000003589256,"domain_scores_codex":[0.9993424,0.00002653172,0.0002836337,0.0001203258,0.0001006556,0.0001264652],"domain_scores_gemma":[0.9993337,0.00005300421,0.0001709447,0.0001345903,0.0002491094,0.0000586324],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00002748282,0.0000162002,0.00212563,0.00001248923,0.00002674121,0.00000407318,0.00004061277,0.00007880347,0.9710498,0.000002577232,0.0004565551,0.02615906],"study_design_scores_gemma":[0.007964859,0.003820844,0.6228823,0.0007616163,0.0002577154,0.004105628,0.0007994001,0.0007087383,0.230708,0.005743288,0.1210629,0.001184723],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9821679,0.006344833,0.01103341,0.000229278,0.00008811573,0.0000745347,0.00000658427,0.000002041689,0.00005330162],"genre_scores_gemma":[0.9703158,0.003515833,0.0258352,0.000196589,0.00002591031,0.000003454152,0.000001639393,0.00001648876,0.00008908383],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7403418,"threshold_uncertainty_score":0.262348,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01540131094195564,"score_gpt":0.2414053230653583,"score_spread":0.2260040121234027,"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."}}