{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002580454,0.0007920898,0.00078455,0.001643839,0.0004406839,0.0008617415,0.0007935132,0.0007844316,0.001696398],"category_scores_gemma":[0.00709076,0.0003657408,0.000803956,0.0009995169,0.0003731896,0.0004891838,0.001593892,0.0005951075,0.000452536],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000276111,"about_ca_system_score_gemma":0.0005288555,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001579107,"about_ca_topic_score_gemma":0.004369201,"domain_scores_codex":[0.9982945,0.0004015613,0.0001752698,0.0006299206,0.00039619,0.0001025035],"domain_scores_gemma":[0.9977379,0.001362343,0.0002869477,0.0003189912,0.0002092291,0.00008459812],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.002405964,0.0002998683,0.1763435,0.000945112,0.001624573,0.003086355,0.0006046372,0.06024189,0.3587764,0.003734919,0.01122236,0.3807146],"study_design_scores_gemma":[0.0003329696,0.0005453448,0.1713342,0.0001583286,0.0004329482,0.005390919,0.000366888,0.4801867,0.3080187,0.01005963,0.02298473,0.0001887268],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"methods","genre_scores_codex":[0.630362,0.001484146,0.3542119,0.0003259126,0.00009000492,0.0002180267,0.005918686,0.00520983,0.002179476],"genre_scores_gemma":[0.69973,0.0004814703,0.2841868,0.000355285,0.0000373306,0.000196031,0.01268722,0.0005082811,0.001817404],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.002580454,"threshold_uncertainty_score":0.0136469,"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."}}