{"id":"W2396470450","doi":"10.1182/blood.v124.21.257.257","title":"Application of Novel Next Generation Sequencing Gene Panel Assay to Genetic and Clinical Diagnosis of Inherited Bone Marrow Failure Syndromes","year":2014,"lang":"en","type":"article","venue":"Blood","topic":"Blood disorders and treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Janeway Children's Health and Rehabilitation Centre; London Health Sciences Centre; McMaster University; University of Alberta; Centre Hospitalier Universitaire de Sherbrooke; Princess Margaret Cancer Centre; Queen's University; University of Saskatchewan; Hospital for Sick Children; Université de Montréal; CancerCare Manitoba; University of Manitoba; Alberta Children's Hospital; Izaak Walton Killam Health Centre; Genome Canada; Children's Hospital of Eastern Ontario; BC Children's Hospital; SickKids Foundation; Montreal Children's Hospital; University of Toronto; Dalhousie University","funders":"","keywords":"Sanger sequencing; Genetic testing; Genetics; Diamond–Blackfan anemia; DNA sequencing; Gene; Bone marrow failure; Genetic counseling; Biology; Fanconi anemia; Bioinformatics; Genotype; Gene mutation; Mutation; Medicine; DNA repair","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":[0.0008262391,0.0004177896,0.000359503,0.0009305137,0.0002181988,0.0003684762,0.0002972111,0.0004122391,0.0007696222],"category_scores_gemma":[0.001009295,0.0001697822,0.0002391304,0.0003634087,0.0002399809,0.0001495208,0.0002147603,0.0003105815,0.0002477834],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006732072,"about_ca_system_score_gemma":0.0006565878,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005819662,"about_ca_topic_score_gemma":0.01214163,"domain_scores_codex":[0.9991732,0.0001743079,0.00005400569,0.0002139367,0.0003344425,0.00005005086],"domain_scores_gemma":[0.9994252,0.0002214515,0.00007921725,0.00003845073,0.0001727881,0.00006295245],"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":[0.0007202337,0.0002059518,0.3650171,0.0002272849,0.0001523024,0.002219329,0.0002961735,0.004730102,0.5169239,0.0004258923,0.001455636,0.107626],"study_design_scores_gemma":[0.0001613733,0.001622024,0.5474827,0.0001086029,0.0003969739,0.01566401,0.0003476932,0.0863902,0.3320311,0.0007912934,0.01490818,0.00009587126],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9533208,0.002754088,0.03784647,0.000285111,0.00008033776,0.0001972922,0.001849813,0.0004686259,0.003197448],"genre_scores_gemma":[0.9390547,0.0007260968,0.05756963,0.0002760103,0.00003131231,0.00009977364,0.001248947,0.00001798339,0.0009754379],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005819662,"threshold_uncertainty_score":0.01157153,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04249468345009508,"score_gpt":0.2696850563465086,"score_spread":0.2271903728964136,"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."}}