{"id":"W7133081570","doi":"","title":"Developing an Approach to Screening Rare Genetic Diagnoses for Amenability to Bespoke Antisense Oligonucleotide Therapy Development","year":2025,"lang":"","type":"dissertation","venue":"TSpace","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Amgen (Canada)","funders":"","keywords":"Bespoke; Medical diagnosis; Genetic diagnosis; Workflow; Exon; Oligonucleotide; Multiplex ligation-dependent probe amplification; Concordance","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.01292743,0.001042049,0.0005272688,0.004276582,0.002065107,0.004555355,0.001274841,0.0007084923,0.003009438],"category_scores_gemma":[0.01796546,0.0004696272,0.001011386,0.002851984,0.001218867,0.00110441,0.003245231,0.001308512,0.001723888],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00848989,"about_ca_system_score_gemma":0.01977362,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.07171653,"about_ca_topic_score_gemma":0.1831757,"domain_scores_codex":[0.9940774,0.001592147,0.0006551525,0.001422101,0.001830692,0.0004224711],"domain_scores_gemma":[0.988257,0.003288688,0.00145299,0.001182195,0.00484187,0.0009773467],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000544424,0.0002609707,0.156411,0.0019359,0.0003267446,0.001888412,0.01617292,0.01045846,0.06616427,0.01117065,0.04673424,0.6879321],"study_design_scores_gemma":[0.0002268889,0.001127311,0.29183,0.002123065,0.0006915252,0.003745904,0.03241708,0.07784089,0.1118219,0.04306353,0.4344729,0.0006389203],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.1863421,0.002788125,0.7298896,0.01581501,0.00046693,0.007457546,0.01378338,0.01155544,0.03190183],"genre_scores_gemma":[0.175506,0.001564704,0.8096461,0.001366366,0.00006569142,0.001226423,0.005142544,0.0006043674,0.004877807],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.07171653,"threshold_uncertainty_score":0.1425982,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0442021982080508,"score_gpt":0.3513860386157218,"score_spread":0.307183840407671,"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."}}