{"id":"W4407245883","doi":"10.1007/s10689-025-00445-z","title":"Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencing","year":2025,"lang":"en","type":"article","venue":"Familial Cancer","topic":"PI3K/AKT/mTOR signaling in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université Laval","funders":"","keywords":"Genetics; Germline; Biology; Human genetics; Genome; Identification (biology); Computational biology; PTEN; Gene","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":[0.0001233635,0.0004325125,0.0002232599,0.0006064316,0.0003090382,0.0002573662,0.0002522262,0.0005537202,0.001693399],"category_scores_gemma":[0.0004385923,0.0001515394,0.0004178645,0.0002353729,0.0002984412,0.00007632771,0.0002984893,0.0004270744,0.0002825524],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001850145,"about_ca_system_score_gemma":0.0002550925,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001158792,"about_ca_topic_score_gemma":0.002076272,"domain_scores_codex":[0.9998546,0.00001231536,0.0000106385,0.00004872344,0.00004448444,0.00002932197],"domain_scores_gemma":[0.9998133,0.00007781421,0.00003735868,0.00001704374,0.00001981546,0.00003481505],"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":[0.0001962696,0.00007390106,0.01003193,0.00005203091,0.00007839885,0.05188996,0.0002182844,0.0007640916,0.9246458,0.00128066,0.0003636199,0.01040505],"study_design_scores_gemma":[0.00009224691,0.0006736576,0.162771,0.00004679529,0.0005296817,0.2221683,0.0003354603,0.009287082,0.5886735,0.001516424,0.01384123,0.00006458841],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9834943,0.0001849367,0.01223719,0.0002275749,0.00004600199,0.00005962213,0.001211758,0.0002162199,0.002322452],"genre_scores_gemma":[0.9948236,0.0001025071,0.003606544,0.00007025323,0.000009327972,0.00001342703,0.0003975466,0.00002909832,0.000947696],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001693399,"threshold_uncertainty_score":0.005665004,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01132022899892261,"score_gpt":0.285363249471042,"score_spread":0.2740430204721194,"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."}}