{"id":"W4407590344","doi":"10.1002/pbc.31592","title":"Osteosarcoma in an Adolescent With Germline <i>DYNC1H1</i> ‐Related Disorder: A Novel Association With Whole Genome and Transcriptome Tumour Analysis","year":2025,"lang":"en","type":"letter","venue":"Pediatric Blood & Cancer","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia; University of Saskatchewan; Canada's Michael Smith Genome Sciences Centre","funders":"Canada's Michael Smith Genome Sciences Centre; Terry Fox Research Institute; BC Children's Hospital","keywords":"Germline; Transcriptome; Medicine; Osteosarcoma; Genome-wide association study; Association (psychology); Genome; Computational biology; Genetics; Single-nucleotide polymorphism; Cancer research; Gene; Biology; Genotype; Gene expression","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002608163,0.00071923,0.0004987748,0.0008345581,0.00135362,0.0007298493,0.0005831367,0.002653742,0.002730677],"category_scores_gemma":[0.001500911,0.0003805872,0.0004229344,0.0006579549,0.0008300261,0.0005110633,0.0005861947,0.001875369,0.0004585325],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005463093,"about_ca_system_score_gemma":0.0004790376,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00486988,"about_ca_topic_score_gemma":0.006228419,"domain_scores_codex":[0.9996667,0.00003388939,0.00003239248,0.0001365447,0.000061035,0.00006948613],"domain_scores_gemma":[0.9991149,0.0003760602,0.0001581368,0.00004753062,0.00009079518,0.0002125373],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001498185,0.00004920215,0.05068429,0.00004656021,0.00003204676,0.9332229,0.000429262,0.000182018,0.004569512,0.0009432095,0.005790195,0.003900956],"study_design_scores_gemma":[0.00002840251,0.00009669435,0.04410212,0.00007290448,0.00006578575,0.9481301,0.0003536617,0.0008599748,0.001210234,0.001190855,0.003863576,0.00002557885],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9540704,0.001691024,0.003921696,0.02344258,0.001043034,0.0001281877,0.00156162,0.0002141742,0.01392714],"genre_scores_gemma":[0.9915211,0.000857316,0.001423138,0.002702055,0.0007447212,0.00002146021,0.0002035024,0.00006330163,0.002463284],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00486988,"threshold_uncertainty_score":0.009683073,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004991888937460419,"score_gpt":0.2186762724882824,"score_spread":0.213684383550822,"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."}}