{"id":"W3164889407","doi":"10.1093/nargab/lqab037","title":"Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing","year":2021,"lang":"en","type":"article","venue":"NAR Genomics and Bioinformatics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Center for Research Resources; National Institutes of Health; Fonds de Recherche en Santé Respiratoire; Hospital for Sick Children; Institut National de la Santé et de la Recherche Médicale; SCOR Corporate Foundation for Science; Institut des maladies génétiques Imagine; St. Giles Foundation; Université de Paris; Rockefeller University; Yale University; National Center for Advancing Translational Sciences; National Human Genome Research Institute; Agence Nationale de la Recherche; National Institute of Allergy and Infectious Diseases; Howard Hughes Medical Institute","keywords":"Exome sequencing; Exon; Genetics; Biology; Computational biology; Exome; Copy-number variation; Gene; Mutation; Genome","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001025628,0.0001270484,0.0001645598,0.00003063525,0.0001605703,0.00005161333,0.00005838561,0.000120041,0.000009224273],"category_scores_gemma":[0.00002652638,0.0001156809,0.00004230574,0.00006581244,0.00008306733,0.00001099741,0.0001125408,0.00006502837,0.000002093444],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002525963,"about_ca_system_score_gemma":0.0001194606,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002675683,"about_ca_topic_score_gemma":0.00005906836,"domain_scores_codex":[0.9992536,0.00001901268,0.0003449834,0.0001390481,0.00007170565,0.0001717008],"domain_scores_gemma":[0.9995108,0.00001317388,0.0001333499,0.0001724964,0.00009810007,0.00007212194],"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":[0.00005009042,0.00002918037,0.000193406,0.0001430734,0.00006839733,0.000004503248,0.0007053027,0.00007087647,0.9919031,0.00009833416,0.0002143339,0.006519455],"study_design_scores_gemma":[0.001888176,0.0008603061,0.0004925348,0.00004650935,0.0001350108,0.001625904,0.00756713,0.01555801,0.8319003,0.0001755481,0.1390812,0.0006693436],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9910771,0.0009060445,0.007189871,0.00006743935,0.00007281495,0.0001050014,0.0003413194,0.000007667777,0.0002327452],"genre_scores_gemma":[0.9927703,0.001161625,0.005273533,0.0001372858,0.00006956229,0.000007203274,0.0002699058,0.00001160757,0.0002989442],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1600028,"threshold_uncertainty_score":0.4717332,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01297703630843684,"score_gpt":0.2067800720448492,"score_spread":0.1938030357364123,"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."}}