{"id":"W2031792684","doi":"10.1006/geno.2000.6139","title":"Molecular Characterization of Germline NF2 Gene Rearrangements","year":2000,"lang":"en","type":"article","venue":"Genomics","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":22,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"","keywords":"Biology; Genetics; Chromosomal inversion; Gene rearrangement; Exon; Gene; Breakpoint; Neurofibromatosis type 2; Intron; Non-allelic homologous recombination; Chromosome; Recombination; Karyotype; Genetic recombination; Neurofibromatosis","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":[0.0001809732,0.0003662003,0.0001455085,0.001407379,0.0003674804,0.0003973053,0.0003189526,0.000567907,0.002520249],"category_scores_gemma":[0.0007861216,0.0001238616,0.0001836987,0.0003680203,0.0004056577,0.0002456326,0.0003218119,0.0002452493,0.0003199607],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002881605,"about_ca_system_score_gemma":0.0002049643,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001116228,"about_ca_topic_score_gemma":0.001025,"domain_scores_codex":[0.9998388,0.0000193357,0.00001439271,0.0000366542,0.0000366099,0.00005416343],"domain_scores_gemma":[0.9997032,0.0001412786,0.00004534276,0.00001953589,0.00003663399,0.00005400404],"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":[0.0004375624,0.0001562318,0.0692659,0.00008535563,0.0000497819,0.07258122,0.0008959405,0.0006705257,0.8399789,0.001803062,0.0003166718,0.01375884],"study_design_scores_gemma":[0.0001058412,0.000594579,0.4280708,0.00003897226,0.000208281,0.2557397,0.00192166,0.004651295,0.2974489,0.00223772,0.008943543,0.00003865744],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964809,0.0001877894,0.000572246,0.00009657742,0.000006705752,0.000009779467,0.0001302572,0.00001540911,0.002500368],"genre_scores_gemma":[0.998996,0.00006270035,0.0004721913,0.00001948282,0.000007992237,0.000005766708,0.0001204214,0.000005738772,0.0003097657],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002520249,"threshold_uncertainty_score":0.008431137,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01274257394870376,"score_gpt":0.2342603476357729,"score_spread":0.2215177736870692,"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."}}