{"id":"W1832157083","doi":"10.1186/1471-2350-7-18","title":"Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions","year":2006,"lang":"en","type":"article","venue":"BMC Medical Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"","keywords":"Breakpoint; Genetics; Biology; Alu element; Chromosome; Sequence (biology); Non-allelic homologous recombination; DiGeorge syndrome; Sequence analysis; Segmental duplication; Genome; Human genome; Gene; Recombination; Genetic recombination","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":[0.00080917,0.00008264896,0.0001463719,0.00005182175,0.00002557851,0.000006934813,0.0001656328,0.0001342669,0.000003556041],"category_scores_gemma":[0.0005196749,0.00005088313,0.00003918605,0.0002246242,0.0003420004,0.000001425356,0.0000891869,0.0001517253,2.603103e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001208002,"about_ca_system_score_gemma":0.0001606495,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003474206,"about_ca_topic_score_gemma":0.007402111,"domain_scores_codex":[0.9988011,0.0002523742,0.0002775663,0.0001668138,0.0003273311,0.0001748156],"domain_scores_gemma":[0.9993739,0.0002146498,0.00007088476,0.0002177631,0.00008881066,0.00003397055],"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":[0.001980413,0.002146395,0.3607989,0.0003586357,0.0001231931,0.00003424102,0.001174313,0.001502171,0.5913117,0.0028139,0.0003195172,0.03743658],"study_design_scores_gemma":[0.01756746,0.001701295,0.792339,0.00103051,0.0001203825,0.000408537,0.001360825,0.04508701,0.1332903,0.002152462,0.004293181,0.0006490545],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995268,0.002003984,0.00183051,0.0001937569,0.000009627962,0.0002942745,0.000005988582,0.000001827255,0.0003919854],"genre_scores_gemma":[0.9992137,0.0002721195,0.0003415085,0.00004658475,0.00003781709,0.00002156391,0.00002807273,0.00000934035,0.00002930159],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4580214,"threshold_uncertainty_score":0.4130552,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01077452477527754,"score_gpt":0.24744811978296,"score_spread":0.2366735950076825,"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."}}