ty -jour a2 -li，peng fei au -bogari，neda M. au -amin，amr A. au -au -au -rayes，husni H. au -abdelmotelb，ahmed au -au -au -au -taher，mohiuddin M. au -al -allaf，faisal a a faisal a a faisal a a a faisal a a a faisal a a. AU - Bouazzaoui, Abdellatif AU - O’Gorman, Luke AU - Holloway, John W. PY - 2021 DA - 2021/02/09 TI - Next Generation Exome Sequencing of Pediatric Asthma Identifies Rare and Novel Variants in Candidate Genes SP - 8884229 VL - 2021 AB - Multiple genes have been implicated to have a role in asthma predisposition by association studies. Pediatric patients often manifest a more extensive form of this disease and a particularly severe disease course. It is likely that genetic predisposition could play a more substantial role in this group. This study is aimed at identifying the spectrum of rare and novel variation in known pediatric asthma susceptibility genes using whole exome sequencing analysis in nine individual cases of childhood onset allergic asthma. DNA samples from the nine children with a history of bronchial asthma diagnosis underwent whole exome sequencing on Ion Proton. For each patient, the entire complement of rare variation within strongly associated candidate genes was catalogued. The analysis showed 21 variants in the subjects, 13 had been previously identified, and 8 were novel. Also, among of which, nineteen were nonsynonymous and 2 were nonsense. With regard to the novel variants, the 2 nonsynonymous variants in the PRKG1基因（ PRKG1：P.C519W和 PRKG1：p.g520w）在4例中提出了 小牛基因（ 小牛：P.A45V）在3例中确定。我们在这项研究中发现的变体将丰富变体光谱并在沙特人群中建立数据库。这项研究中发现了新的八种变体，该变量在沙特儿童的哮喘中提供了更多证据，为沙特儿童的分子遗传疾病提供了遗传筛查图，目的是减少慢性疾病对慢性疾病的影响。健康与经济。我们认为，本研究中使用的先进的指定统计过滤/注释计划成功地释放了此类结果，并在一项初步研究中探索了沙特儿童中该疾病的遗传图。SN -0278-0240 UR -https：//doi.org/10.1155/2021/8884229 do -10.1155/2021/8884229 JF-疾病标记 - 疾病标记PB -Hindawi KW -er -er-