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222篇 您的检索式:作者名="Xin Ni"
    题名 作者 年代 出处 被引量
1Improved survival of porcine acute liver failure by a bioartificial liver device implanted with induced human functional hepatocytes显示文摘Xiao-Lei Shi Yimeng Gao YupengYan HuchengMa Lulu Sun Pengyu Huang Xuan Ni Ludi Zhang Xin Zhao Haozhen Ren Dan Hu Yan Zhou Feng Tian Yuan Ji Xin Cheng Guoyu Pan Yi-Tao Ding LijianHui 2016Cell Research2016,26,2:31
2Deep Learning in Medical Ultrasound Analysis: A Review显示文摘Ultrasound (US) has become one of the most commonly performed imaging modalities in clinical practice. It is a rapidly evolving technology with certain advantages and with unique challenges that include low imaging quality and high variability. From the perspective of image analysis, it is essential to develop advanced automatic US image analysis methods to assist in US diagnosis and/or to make such assessment more objective and accurate. Deep learning has recently emerged as the leading machine learning tool in various research fields, and especially in general imaging analysis and computer vision. Deep learning also shows huge potential for various automatic US image analysis tasks. This review first briefly introduces several popular deep learning architectures, and then summarizes and thoroughly discusses their applications in various specific tasks in US image analysis, such as classification, detection, and segmentation. Finally, the open challenges and potential trends of the future application of deep learning in medical US image analysis are discussed.Shengfeng Liu Yi Wang Xin Yang Baiying Lei Li Liu Shawn Xiang Li Dong Ni Tianfu Wang 2019Engineering2019,5,2:24
32016 Chinese expert consensus and guidelines for the diagnosis and treatment of papillary thyroid microcarcinoma显示文摘The incidence of papillary thyroid carcinoma(PTC)has exponentially increased in recent years.Papillary thyroid microcarcinoma(PTMC)accounts for the majority of the reported cases of PTC.The debates and crucial issues in PTMC management have received researchers'attention.To further improve the clinical management of PTMC in China,Ming Gao Minghua Ge Qinghai Ji Ruochuan Cheng Hankui Lu Haixia Guan Li Gao Zhuming Guo Tao Huang Xiaoming Huang Xiaoming Li Yansong Lin Qinjiang Liu Xin Ni Yi Pan Jianwu Qin Zhongyan Shan Hui Sun Xudong Wang Zhengang Xu Yang Yu Daiwei Zhao Naisong Zhang ShengZhang Ying Zheng Jingqiang Zhu Dapeng Li Xiangqian Zheng 2017Cancer Biology & Medicine2017,14,3:23
4Treatment and outcomes of 1041 pediatric patients with neuroblastoma who received multidisciplinary care in China显示文摘Importance:Neuroblastoma is the most common extracranial malignant solid tumor in children.Multidisciplinary care is critical to improving the survival of pediatric patients with neuroblastoma.Objective:To systematically summarize the clinical characteristics of children with neuroblastoma and evaluate their prognosis with multidisciplinary care provided in a single center.Methods:This retrospective study analyzed the clinical data of 1041 patients with neuroblastoma who were diagnosed,treated,and followed-up in the Hematology-Oncology Center of Beijing Children’s Hospital from 2007 to 2019.Results:The median age at diagnosis was 34 months;80.8%of the patients were younger than 5 years of age.Notably,243 patients(23.3%)were classified as low-risk,249 patients(23.9%)were classified as intermediate-risk,and 549(52.7%)were classified as high-risk.Furthermore,956 patients underwent surgical resections;986(94.7%)patients received chemotherapy;and 176 patients with high-risk neuroblastoma received hematopoietic stem cell transplantation.The 5-year event-free survival(EFS)rate was 91.3%and 5-year overall survival(OS)rate was 97.5%in low-risk group;in the intermediate-risk group,these rates were 85.1%and 96.7%,respectively,while they were 37.7%and 48.9%in the high-risk group(P<0.001 for both).The 5-year EFS and OS rates were significantly higher in patients diagnosed between 2015 and 2019 than in patients diagnosed between 2007 and 2014(P<0.001).In total,278 patients(26.7%)exhibited tumor relapse or progression;the median interval until relapse or progression was 14 months.Of the 233 patients who died,83%died of relapse or progression of neuroblastoma and 4.3%died of therapy-related complications.Interpretation:The 5-year OS rate was low in high-risk patients,compared with low-and intermediate-risk patients.Multidisciplinary care is critical for improvement of survival in pediatric patients with neuroblastoma.Additional treatment strategies should be sought to improve the prognosis of patients with high-risk neuroblastoma.Yan Su Hong Qin Chenghao Chen Shengcai Wang Shihan Zhang Dawei Zhang Mei Jin Yun Peng Lejian He Xiaoman Wang Suyun Qian Maoquan Qin Ming Ge Fuquan Zhang Qi Zeng Huanmin Wang Xiaoli Ma Xin Ni 2020Pediatric Investigation2020,4,3:16
5The Chromosome-Based Rubber Tree Genome Provides New Insights into Spurge Genome Evolution and Rubber Biosynthesis显示文摘The rubber tree,Hevea brasiliensis,produces natural rubber that serves as an essential industrial raw material.Here,we present a high-quality reference genome for a rubber tree cultivar GT1 using single-molecule real-time sequencing(SMRT)and Hi-C technologies to anchor the~1.47-Gb genome assembly into 18 pseudochromosomes.The chromosome-based genome analysis enabled us to establish a model of spurge chromosome evolution,since the common paleopolyploid event occurred before the split of Hevea and Manihot.We show recent and rapid bursts of the three Hevea-specific LTR-retrotransposon families during the last 10 million years,leading to the massive expansion by~65.88%(~970 Mbp)of the whole rubber tree genome since the divergence from Manihot.We identify large-scale expansion of genes associated with whole rubber biosynthesis processes,such as basal metabolic processes,ethylene biosynthesis,and the activation of polysaccharide and glycoprotein lectin,which are important properties for latex production.A map of genomic variation between the cultivated and wild rubber trees was obtained,which contains~15.7 million high-quality single-nucleotide polymorphisms.We identified hundreds of candidate domestication genes with drastically lowered genomic diversity in the cultivated but not wild rubber trees despite a relatively short domestication history of rubber tree,some of which are involved in rubber biosynthesis.This genome assembly represents key resources for future rubber tree research and breeding,providing novel targets for improving plant biotic and abiotic tolerance and rubber production.Jin Liu Cong Shi Cheng-Cheng Shi Wei Li Qun-Jie Zhang Yun Zhang Kui Li Hui-Fang Lu Chao Shi Si-Tao Zhu Zai-Yun Xiao Hong Nan Yao Yue Xun-Ge Zhu Yu Wu Xiao-Ning Hong Guang-Yi Fan Yan Tong Dan Zhang Chang-Li Mao Yun-Long Liu Shi-Jie Hao Wei-Qing Liu Mei-Qi Lv Hai-Bin Zhang Yuan Liu Ge-Ran Hu-tang Jin-Peng Wang Jia-Hao Wang Ying-Huai Sun Shu-Bang Ni Wen-Bin Chen Xing-Cai Zhang Yuan-Nian Jiao Evan E.Eichler Guo-Hua Li Xin Liu Li-Zhi Gao 2020Molecular Plant2020,13,2:15
6Periplocoside A prevents experimental autoimmune encephalomyelitis by suppressing IL-17 production and inhibits differentiation of Th17 cells显示文摘Jing ZHANGt Jia NI Zhen-hua CHEN Xin LI Ru-jun ZHANG Wei TANG Wei-min ZHAO Yi-fu YANG Jian-ping ZUO 2009Acta Pharmacologica Sinica2009,30,8:14
7Ciliary parathyroid hormone signaling activates transforming growth factor-βto maintain intervertebral disc homeostasis during aging显示文摘Degenerative disc disease(DDD) is associated with intervertebral disc degeneration of spinal instability. Here, we report that the cilia of nucleus pulposus(NP) cells mediate mechanotransduction to maintain anabolic activity in the discs. We found that mechanical stress promotes transport of parathyroid hormone 1 receptor(PTH1 R) to the cilia and enhances parathyroid hormone(PTH) signaling in NP cells. PTH induces transcription of integrin α_vβ_6 to activate the transforming growth factor(TGF)-β-connective tissue growth factor(CCN2)-matrix proteins signaling cascade. Intermittent injection of PTH(iPTH) effectively attenuates disc degeneration of aged mice by direct signaling through NP cells, specifically improving intervertebral disc height and volume by increasing levels of TGF-β activity, CCN2, and aggrecan. PTH1 R is expressed in both mouse and human NP cells. Importantly,knockout PTH1 R or cilia in the NP cells results in significant disc degeneration and blunts the effect of PTH on attenuation of aged discs. Thus, mechanical stress-induced transport of PTH1 R to the cilia enhances PTH signaling, which helps maintain intervertebral disc homeostasis, particularly during aging, indicating therapeutic potential of iPTH for DDD.Liwei Zheng Yong Cao Shuangfei Ni Huabin Qi Zemin Ling Xin Xu Xuenong Zou Tianding Wu Ruoxian Deng Bo Hu Bo Gao Hao Chen Yusheng Li Jianxi Zhu Francis Tintani Shadpour Demehri Amit Jain Khaled M.Kebaish Shenghui Liao Cheryle A.Séguin Janet L.Crane Mei Wan Hongbin Lu Paul D.Sponseller Lee H.RileyIII Xuedong Zhou Jianzhong Hu Xu Cao 2018Bone Research2018,6,3:13
8Rapid Detection and Identification of Infectious Pathogens Based on High-throughput Sequencing显示文摘Pei-Xiang Ni Xin Ding Yin-Xin Zhang Xue Yao Rui-Xue Sun Peng Wang Yan-Ping Gong Jia-Li Zhou Dong-Fang Li Hong-Long WO Xin Yi Ling Yang Yun Long 2015Chinese Medical Journal2015,,7:13
9High-performance planar heterojunction perovskite solar cells: Preserving long charge carrier diffusion lengths and interracial engineering显示文摘Sai Bai Zhongwei Wu Xiaojing Wu Yizheng Jin Ni Zhao Zhihui Chen Qingqing Mei Xin Wang Zhizhen Ye Tao Song Ruiyuan Liu Shuit-tong Lee Baoquan Sun 2014Nano Research2014,7,12:13
10Pediatric reference intervals in China(PRINCE):design and rationale for a large,multicenter collaborative cross-sectional study显示文摘There is a lack of accurate pediatric reference intervals(RIs) in China, with most commonly used RIs established without consideration of the effect of age and gender. The Pediatric Reference Intervals in China(PRINCE) project aims to establish and verify pediatric RIs for 31 common laboratory measurands.The project will be a large, multicenter cross-sectional study:14,490 healthy children and adolescents aged up to 19 years will be surveyed by 10 children's hospitals and one pediatric department of a university hospital. To evaluate the feasibility and efficiency of the study methods, 602 children were surveyed in the pilot phase of the PRINCE study in April 2017: it found that some measurands were distinctly age dependent and that there were differences between values for males and females. The results of the pilot study affirmed the necessity of the PRINCE project for Chinese pediatrics. The pilot also indicated potential difficulties in the full survey, e.g., difficulties in recruiting children aged under 3 years and insufficient collection of blood samples from infants. The operation of the PRINCE project has been modified based on the findings in the pilot study toward improving the validity of the PRINCE project and promoting its openness and transparency.Xin Ni Wenqi Song Xiaoxia Peng Ying Shen Yaguang Peng Qiliang Li Yan Wang Lixin Hu Yanying Cai Hong Shang Min Zhao Hong Jiang Yaoguo Huang Runqing Mu Wenxiang Chen Mingting Peng Chuanbao Zhang Jie Zeng Chenbin Li Hongling Yang Yongmei Jiang Jin Xu Guixia Li Hongbing Chen Yun Xiang Sancheng Cao Zhenxin Guo Dapeng Chen 2018Science Bulletin2018,63,24:12
11Low-threshold topological nanolasers based on the second-order corner state显示文摘Topological lasers are immune to imperfections and disorder.They have been recently demonstrated based on many kinds of robust edge states,which are mostly at the microscale.The realization of 2D on-chip topological nanolasers with a small footprint,a low threshold and high energy efficiency has yet to be explored.Here,we report the first experimental demonstration of a topological nanolaser with high performance in a 2D photonic crystal slab.A topological nanocavity is formed utilizing the Wannier-type 0D corner state.Lasing behaviour with a low threshold of approximately 1μW and a high spontaneous emission coupling factor of 0.25 is observed with quantum dots as the active material.Such performance is much better than that of topological edge lasers and comparable to that of conventional photonic crystal nanolasers.Our experimental demonstration of a low-threshold topological nanolaser will be of great significance to the development of topological nanophotonic circuitry for the manipulation of photons in classical and quantum regimes.Weixuan Zhang Xin Xie Huiming Hao Jianchen Dang Shan Xiao Shushu Shi Haiqiao Ni Zhichuan Niu Can Wang Kuijuan Jin Xiangdong Zhang Xiulai Xu 2020Light(Science & Applications)2020,9,1:10
12effective treatment of post-intubation subglottic stenosis in children with holmium laser therapy and cryotherapy via flexible bronchoscopy显示文摘Importance:Post-intubation subglottic stenosis(SGS)in children can be life threatening.Definitive treatment varies and lacks a universally accepted approach.Objective:We performed a prospective study to assess the safety and feasibility of holmium laser combined with cryotherapy delivered via flexible bronchoscopy for the treatment of post-intubation SGS in children.Methods:This study involved all patients with post-intubation SGS seen at the Interventional Pulmonology Department of Beijing Children's Hospital between July 2014 and December 2016.Holmium laser treatment and cryotherapy was then performed under flexible bronchoscopy,whose parents refused to accept the alternative standard treatment of tracheotomy and balloon dilation under direct laryngoscopy.results:Sixteen patients with post-intubation SGS were included in this study.Ages ranged from 2 months to 12.25 years old.According to the Cotton-Myer grading system,three cases were Grade II,12 cases were Grade III,and one case was Grade IV.According to the McCaffrey system,eight cases were Stage 1,two cases were Stage 2,and six cases were Stage 3.The average number of procedures was 4.88.Fifteen of the 16 patients achieved clinical cure.One patient achieved clinical improvement.The average treatment course duration was 55.31 days.No severe complications were seen.Post-treatment clinical symptoms,endoscopic findings and quality of life showed marked improvement.Interpretation:Our study supports the conclusion that holmium laser treatment combined with cryotherapy via flexible bronchoscopy appears to be a safe and feasible treatment for post-intubation SGS in children.Anxia Jiao Fang Liu Andrew D.Lerner Xiaochun Rao Yan Guo Chenfang Meng Yuena Pan Gan Li Zheng Li Fang Wang Jing Zhao Yuyan Ma Xicheng Liu Xin Ni Kunling Shen 2019Pediatric Investigation2019,3,1:10
13Wheat genomic study for genetic improvement of traits in China显示文摘Bread wheat(Triticum aestivum L.)is a major crop that feeds 40%of the world’s population.Over the past several decades,advances in genomics have led to tremendous achievements in understanding the origin and domestication of wheat,and the genetic basis of agronomically important traits,which promote the breeding of elite varieties.In this review,we focus on progress that has been made in genomic research and genetic improvement of traits such as grain yield,end-use traits,flowering regulation,nutrient use efficiency,and biotic and abiotic stress responses,and various breeding strategies that contributed mainly by Chinese scientists.Functional genomic research in wheat is entering a new era with the availability of multiple reference wheat genome assemblies and the development of cutting-edge technologies such as precise genome editing tools,highthroughput phenotyping platforms,sequencing-based cloning strategies,high-efficiency genetic transformation systems,and speed-breeding facilities.These insights will further extend our understanding of the molecular mechanisms and regulatory networks underlying agronomic traits and facilitate the breeding process,ultimately contributing to more sustainable agriculture in China and throughout the world.Jun Xiao Bao Liu Yingyin Yao Zifeng Guo Haiyan Jia Lingrang Kong Aimin Zhang Wujun Ma Zhongfu Ni Shengbao Xu Fei Lu Yuannian Jiao Wuyun Yang Xuelei Lin Silong Sun Zefu Lu Lifeng Gao Guangyao Zhao Shuanghe Cao Qian Chen Kunpu Zhang Mengcheng Wang Meng Wang Zhaorong Hu Weilong Guo Guoqiang Li Xin Ma Junming Li Fangpu Han Xiangdong Fu Zhengqiang Ma Daowen Wang Xueyong Zhang Hong-Qing Ling Guangmin Xia Yiping Tong Zhiyong Liu Zhonghu He Jizeng Jia Kang Chong 2022Science China(Life Sciences)2022,65,9:9
14Correlation between BRAF^(V600E) mutation and clinicopathological features in pediatric papillary thyroid carcinoma显示文摘In adults, the presence of the BRAF^(V600E) mutation in papillary thyroid cancer(PTC) has been demonstrated to be strongly associated with aggressive cancer-cell characteristics and poor patient prognosis. In contrast, the frequency of this mutation in pediatric PTC has undergone limited study, and the few available estimates range from 0 to 63%. Furthermore, the role of the BRAF^(V600E) mutation in pediatric PTC is controversial; thus, the present study aimed to investigate the prevalence and role of the BRAF^(V600E) mutation in48 pediatric patients with PTC, aged 3–13 years. Of these patients, 41 were diagnosed with classic PTC, five were found to have a follicular variant of PTC, and two to exhibit a diffuse sclerosing PTC variant. The BRAF^(V600E) mutation was identified to be present in 35.4% of the 48 analyzed patients, and in 41.5% of the patients diagnosed with classical PTC. Furthermore, the presence of the BRAF^(V600E) mutation was found to be associated with a patient age at diagnosis of less than ten years(P=0.011), the performance of a thyroidectomy(P=0.03), exhibited tumor multifocality(P=0.02) and/or extra-thyroidal invasion(P=0.003), and both a low MACIS(Metastases, Age, Completeness of resection, Invasion, Size)(P=0.036) and AMES(Age, Metastasis, Extent of tumor,Size)(P=0.001)score. Together, these data suggest that the presence of the BRAF^(V600E) mutation may be negatively correlated with partial aggressive clinicopathological features of pediatric PTC.Jiangqiao Geng Huanmin Wang Yuanhu Liu Jun Tai Yaqiong Jin Jie Zhang Lejian He Libing Fu Hong Qin Yingluan Song Jinzhu Su Aiying Zhang Xin Wen Yongli Guo Xin Ni 2017Science China(Life Sciences)2017,60,7:9
15Cerebral lipiodol embolism following transcatheter arterial chemoembolization for hepatocellular carcinoma: a report of two cases and literature review显示文摘服的 lipiodol 栓塞( CLE )是 transcatheter 的极其稀罕的复杂并发症为 hepatocellular carcinoma.To 的动脉的 chemoembolization 我们的知识,仅仅 11 个案例以前是最近遇到的 reported.We 在我们的临床的 work.Reviewing 的 CLE 的二个案例在文学的 11 个案例和在我们的报告的二个案例显示微粒 embolization 的那大剂量 lipiodol 注入和缺席应该是自左至右的分流和劣等的膈的动脉 injecti 的 avoided.TheLI Zhi NI Rui-fang BUSIREDDY Kiran Kumar Reddy JIN Yong-hai ZHAO Xin LI Ming-ming YANG Chao 2011Chinese Medical Journal2011,,24:9
16Evaluation of soil washing process with carboxymethyl-β-cyclodextrin and carboxymethyl chitosan for recovery of PAHs/heavy metals/fluorine from metallurgic plant site显示文摘Polycyclic aromatic hydrocarbons(PAHs)/heavy metals/fluorine(F) mixed-contaminated sites caused by abandoned metallurgic plants are receiving wide attention. To address the associated environmental problems,this study was initiated to investigate the feasibility of using carboxymethyl-β-cyclodextrin(CMCD) and carboxymethyl chitosan(CMC) solution to enhance ex situ soil washing for extracting mixed contaminants. Further,Tenax extraction method was combined with a first-three-compartment model to evaluate the environmental risk of residual PAHs in washed soil. In addition,the redistribution of heavy metals/F after decontamination was also estimated using a sequential extraction procedure. Three successive washing cycles using50 g/L CMCD and 5 g/L CMC solution were effective to remove 94.3% of total PAHs,93.2% of Pb,85.8% of Cd,93.4% of Cr,83.2% of Ni and 97.3% of F simultaneously. After the 3rd washing,the residual PAHs mainly existed as very slowly desorbing fractions,which were in the form of well-aged,well-sequestered compounds; while the remaining Pb,Cd,Cr,Ni and F mainly existed as Fe–Mn oxide and residual fractions,which were always present in stable mineral forms or bound to non-labile soil fractions. Therefore,this combined cleanup strategy proved to be effective and environmentally friendly.Mao Ye Mingming Sun Fredrick Orori Kengara Jingting Wang Ni Ni Li Wang Yang Song Xinglun Yang Huixin Li Feng Hu Xin Jiang 2014Journal of Environmental Sciences2014,26,8:8
17A natural variation in Ribonuclease H-like gene underlies Rht8 to confer“Green Revolution”trait in wheat显示文摘Dear Editor,Introduction of gibberellin(GA)-insensitive Reduced height(Rht)genes,Rht-B1b and Rht-D1b,has resulted in the“Green Revolution”in modern wheat cultivars(Triticum aestivum)that has skyrocketed wheat grain yields worldwide since the 1960s(Peng et al.,1999;Velde et al.,2021).However,Rht-B1b/D1b also reduce coleoptiles,which is undesired in dryland regions where deep planting is essential for seedling establishment(Rebetzke et al.,1999,Rebetzke et al.,2001;Ellis et al.,2004).Lingling Chai Mingming Xin Chaoqun Dong Zhaoyan Chen Huijie Zhai Junhong Zhuang Xuejiao Cheng Naijiao Wang Jia Geng Xiaobo Wang Ruolin Bian Yingyin Yao Weilong Guo Zhaorong Hu Huiru Peng Guihua Bai Qixin Sun Zhenqi Su Jie Liu Zhongfu Ni 2022Molecular Plant2022,15,3:8
18Characterization of odorous charge and photochemical reactivity of VOC emissions from a full-scale food waste treatment plant in China显示文摘Food waste treatment plants(FWTPs) are usually associated with odorous nuisance and health risks, which are partially caused by volatile organic compound(VOC) emissions. This study investigated the VOC emissions from a selected full-scale FWTP in China. The feedstock used in this plant was mainly collected from local restaurants. For a year, the FWTP was closely monitored on specific days in each season. Four major indoor treatment units of the plant, including the storage room, sorting/crushing room, hydrothermal hydrolysis unit, and aerobic fermentation unit, were chosen as the monitoring locations.The highest mean concentration of total VOC emissions was observed in the aerobic fermentation unit at 21,748.2–31,283.3 μg/m3, followed by the hydrothermal hydrolysis unit at 10,798.1–23,144.4 μg/m3. The detected VOC families included biogenic compounds(oxygenated compounds, hydrocarbons, terpenes, and organosulfur compounds) and abiogenic compounds(aromatic hydrocarbons and halocarbons). Oxygenated compounds,particularly alcohols, were the most abundant compounds in all samples. With the use of odor index analysis and principal components analysis, the hydrothermal hydrolysis and aerobic fermentation units were clearly distinguished from the pre-treatment units, as characterized by their higher contributions to odorous nuisance. Methanthiol was the dominant odorant in the hydrothermal hydrolysis unit, whereas aldehyde was the dominant odorant in the aerobic fermentation unit. Terpenes, specifically limonene, had the highest level of propylene equivalent concentration during the monitoring periods. This concentration can contribute to the increase in the atmospheric reactivity and ozone formation potential in the surrounding air.Zhe Ni Jianguo Liu Mingying Song Xiaowei Wang Lianhai Ren Xin Kong 2015Journal of Environmental Sciences2015,27,3:7
19Hydrothermal Synthesis of MoO_2 and Supported MoO_2 Catalysts for Oxidative Desulfurization of Dibenzothiophene显示文摘A novel method for obtaining spherical MoO2 nanoparticles and SiO2-Al2O3 supported MoO2 by hydrothermal reduction of Mo(VI) species was studied. The obtained MoO2 catalysts show very high catalytic activity in the oxidative desulfurization(ODS) process. The effect of hydrothermal temperature and crystallization temperature on ODS activity was investigated. The ODS activity of supported MoO2 catalysts with various MoO2 contents were also investigated. The mechanism for formation of MoO2 involving oxalic acid was proposed.Wang Danhong Zhang Jianyong Liu Ni Zhao Xin Zhang Minghui 2014China Petroleum Processing & Petrochemical Technology2014,16,4:7
20Newborn screening with targeted sequencing:a multicenter investigation and a pilot clinical study in China显示文摘Different newborn screening(NBS) programs have been practiced in many countries since the 1960 s. It is of considerable interest whether next-generation sequencing is applicable in NBS. We have developed a panel of 465 causative genes for 596 early-onset, relatively high incidence, and potentially actionable severe inherited diseases in our Newborn Screening with Targeted Sequencing(NESTS) program to screen 11,484 babies in 8 Women and Children’s hospitals nationwide in China retrospectively. The positive rate from preliminary screening of NESTS was 7.85%(902/11,484). With 45.89%(414/902) follow-up of preliminary positive cases, the overall clinically confirmative diagnosis rate of monogenic disorders was 12.07%(50/414), estimating an average of 0.95%(7.85% × 12.07%) clinical diagnosis rate, suggesting that monogenic disorders account for a considerable proportion of birth defects. The disease/gene spectrum varied in different regions of China. NESTS was implemented in a hospital by screening 3923 newborns to evaluate its clinical application. The turn-around time of a primary report, including the sequencing period of < 7 days, was within 11 days by our automatic interpretation pipeline. Our results suggest that NESTS is feasible and cost-effective as a first-tier NBS program, which will change the status of current clinical practice of NBS in China.Chanjuan Hao Ruolan Guo Xuyun Hu Zhan Qi Qi Guo Xuanshi Liu Yuanhu Liu Yanhua Sun Xiaofen Zhang Feng Jin Xiujie Wu Ren Cai Dingyuan Zeng Xijiang Hu Xiaohua Wang Xiaoping Ji Wenjie Li Quansheng Xing Lanfang Mu Xiulian Jiang Xue Yang Weimin Yang Yan Zhang Qianli Yin Xin Ni Wei Li 2022Journal of Genetics and Genomics2022,49,1:7
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