{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004494913,0.001063701,0.0006442717,0.0005579628,0.0008316289,0.0004086152,0.000666191,0.0007146057,0.001014642],"category_scores_gemma":[0.004143701,0.0002669328,0.0006839145,0.0004838638,0.0006019452,0.0003355574,0.0007456185,0.0003689685,0.0002100446],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008544966,"about_ca_system_score_gemma":0.001519425,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008991838,"about_ca_topic_score_gemma":0.006790064,"domain_scores_codex":[0.9986552,0.0005591366,0.0001259107,0.0003237747,0.0002173542,0.0001185521],"domain_scores_gemma":[0.9988214,0.0004133633,0.0001479422,0.0001706447,0.0002705267,0.0001760968],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00309764,0.001816683,0.7573393,0.000522145,0.0004892345,0.01039661,0.00396819,0.003249512,0.1623257,0.0004739768,0.0009853126,0.05533576],"study_design_scores_gemma":[0.0005506913,0.01276867,0.9089047,0.00007908298,0.0006805443,0.01079852,0.001511093,0.005776594,0.05445162,0.0002176837,0.00416136,0.0000994301],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975489,0.000119434,0.001639619,0.00004758319,0.000004203828,0.0002363821,0.0001932293,0.00001038329,0.0002002937],"genre_scores_gemma":[0.9934136,0.0002685764,0.004489581,0.0001707293,0.00001264925,0.0006153858,0.0007886991,0.0000143781,0.0002264128],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008991838,"threshold_uncertainty_score":0.0237717,"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."}}