{"id":"W1960333691","doi":"10.1186/s12881-015-0246-2","title":"Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project","year":2015,"lang":"en","type":"article","venue":"BMC Medical Genetics","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":46,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lockheed Martin (Canada)","funders":"","keywords":"SMN1; Spinal muscular atrophy; SMA*; Genetics; Biology; Carrier testing; Population; 1000 Genomes Project; Exome; Concordance; Bioinformatics; Computational biology; Exome sequencing; Gene; Computer science; Medicine; Single-nucleotide polymorphism; Prenatal diagnosis; Mutation; Algorithm","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":[0.002789206,0.0001424092,0.0003229635,0.0001618741,0.00005917622,0.00001412208,0.0002168328,0.000152463,0.0000159189],"category_scores_gemma":[0.002908116,0.0001026843,0.0001302865,0.0004785162,0.000197272,0.0000221286,0.00006148697,0.0002289074,0.000001705758],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005498407,"about_ca_system_score_gemma":0.001225929,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003039374,"about_ca_topic_score_gemma":0.000139732,"domain_scores_codex":[0.9969218,0.0005998704,0.0004765929,0.0003115444,0.001235525,0.0004546033],"domain_scores_gemma":[0.9987507,0.00023423,0.0000981434,0.0003691248,0.0002546478,0.0002930885],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.01311,0.00475994,0.1417257,0.005680147,0.0009086059,0.0004175358,0.02256919,0.01021401,0.05583986,0.0006938345,0.001739471,0.7423416],"study_design_scores_gemma":[0.07037997,0.02245929,0.08433795,0.001124973,0.002167926,0.0002518655,0.02073893,0.6093487,0.1757413,0.001537839,0.01066921,0.001242068],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8709407,0.001421144,0.1258699,0.0001893148,0.00007978084,0.00143474,0.000005797997,0.00001298506,0.00004557472],"genre_scores_gemma":[0.9739568,0.0001605322,0.02530006,0.0001154129,0.0001654501,0.0002266409,0.00002625754,0.00002552568,0.00002335406],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7410996,"threshold_uncertainty_score":0.4187344,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1257292477287624,"score_gpt":0.428206608161589,"score_spread":0.3024773604328266,"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."}}