{"id":"W4390988407","doi":"10.1002/mgg3.2357","title":"Targeted exome sequencing strategy (<scp>NeoEXOME</scp>) for Chinese newborns using a pilot study with 3423 neonates","year":2024,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Infection and Immunity","funders":"Shanghai Hospital Development Center; Chongqing Science and Technology Commission; National Natural Science Foundation of China","keywords":"Medicine; Exome sequencing; Exome; Whole genome sequencing; Chinese population; DNA sequencing; Population; Genotype; Pediatrics; Bioinformatics; Genome; Genetics; Internal medicine; Gene; Biology; Mutation; Environmental health","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003742508,0.0005989523,0.0005167923,0.0002359613,0.0001621992,0.0001104114,0.0004483625,0.00012767,0.00001660331],"category_scores_gemma":[0.0001264304,0.0004682582,0.0001380585,0.0003551673,0.0001870832,0.000006431616,0.0001801406,0.0001766588,0.000008224166],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001020896,"about_ca_system_score_gemma":0.0006568916,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001692512,"about_ca_topic_score_gemma":0.0001176166,"domain_scores_codex":[0.9972119,0.000102376,0.0005771834,0.001074348,0.0003327051,0.0007014371],"domain_scores_gemma":[0.9984674,0.00006201426,0.0001439638,0.0007447036,0.0002280166,0.0003538984],"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":[0.0001260135,0.0001570196,0.001458035,0.0001400336,0.0005397986,0.0003838426,0.000474649,0.01226505,0.9833294,0.00004353089,0.000216822,0.0008657958],"study_design_scores_gemma":[0.03729998,0.1530127,0.05824677,0.001617,0.008580347,0.003919071,0.02537035,0.1417437,0.4473368,0.007605101,0.1090274,0.006240792],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9479542,0.03229214,0.01748153,0.00007061668,0.0003815184,0.001490508,0.0001137893,0.00005829532,0.0001574036],"genre_scores_gemma":[0.9946112,0.0003825903,0.002791448,0.0003429514,0.0007431028,0.0001170073,0.0004610653,0.0002014413,0.0003492041],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5359926,"threshold_uncertainty_score":0.9997769,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02204407437121879,"score_gpt":0.2812066998120885,"score_spread":0.2591626254408697,"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."}}