{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00004696036,0.00007319405,0.0001634001,0.00004098791,0.00001936484,0.000006232875,0.00004281797,0.00003570277,0.0004664241],"category_scores_gemma":[0.000004773325,0.00007070046,0.00005727827,0.00007556743,0.0000197224,0.00002832061,0.00001207191,0.0000382917,0.00005885681],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000161079,"about_ca_system_score_gemma":0.00002613266,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003464341,"about_ca_topic_score_gemma":1.076819e-7,"domain_scores_codex":[0.9994365,0.00001375423,0.0002089479,0.0001318374,0.0001027224,0.0001062559],"domain_scores_gemma":[0.999629,0.000003861813,0.00005279932,0.0002255379,0.00003349704,0.00005531878],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00009228073,0.00006551895,0.0008912294,0.00002630897,0.00002129375,0.00005236283,0.00004498885,0.000005825371,0.9856991,0.00002801765,0.0000320967,0.013041],"study_design_scores_gemma":[0.0008515682,0.0002004753,0.06101532,0.00002586813,0.00006561539,0.0001059947,0.000004688861,0.0002283081,0.921446,0.0000260715,0.01593239,0.00009767352],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979643,0.00009407807,0.00008418153,0.0001808712,0.0000454385,0.0001713087,0.00003656128,0.00002062471,0.00140266],"genre_scores_gemma":[0.9974226,0.000245659,0.0008407708,0.0004112535,0.00006903224,0.000004306738,0.0001723958,0.00002033111,0.0008136624],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06425305,"threshold_uncertainty_score":0.5107017,"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."}}