{"id":"W3006199157","doi":"10.6000/2292-2598.2020.08.01.2","title":"Robust Screening and Cascade Testing for Fragile X Expansions in a Large Multigenerational Family Identify Many Affected Individuals: An Experience in the Remote Area of Indonesia","year":2020,"lang":"en","type":"article","venue":"Journal of Intellectual Disability - Diagnosis and Treatment","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Cascade; Fragile X syndrome; Psychology; Engineering; Psychiatry","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008934035,0.0004106772,0.0002324214,0.0002579206,0.0006773588,0.0002790073,0.0003791534,0.0002574425,0.001337006],"category_scores_gemma":[0.001287391,0.0001593213,0.0002064125,0.0001527487,0.000393206,0.000266699,0.0006340463,0.0006118917,0.0002895333],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002560557,"about_ca_system_score_gemma":0.0004130435,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003610683,"about_ca_topic_score_gemma":0.007832902,"domain_scores_codex":[0.9995245,0.0001804266,0.00003632272,0.0001155916,0.00009036996,0.00005289311],"domain_scores_gemma":[0.999542,0.0001213662,0.00005094295,0.0000566885,0.00006030064,0.0001686604],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005339436,0.001980709,0.6791034,0.0001267404,0.00006400224,0.07677604,0.01247917,0.0004084116,0.05074298,0.0002582173,0.001599504,0.1759268],"study_design_scores_gemma":[0.00006709764,0.002702565,0.7953209,0.0001084374,0.0001208583,0.1682318,0.007826676,0.002437729,0.0160147,0.0005297097,0.006576861,0.00006269404],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959546,0.0002482686,0.001517438,0.0001628533,0.000009143937,0.00007001189,0.00002518321,0.00002749539,0.001985032],"genre_scores_gemma":[0.9943805,0.0003670861,0.00407238,0.0001515607,0.000009209797,0.00001865113,0.00004154582,0.00001450544,0.0009444825],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003610683,"threshold_uncertainty_score":0,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1276984847401791,"score_gpt":0.3267201698193359,"score_spread":0.1990216850791568,"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."}}