检索结果-南通市图书馆

Newborn screening with targeted sequencing:a multicenter investigation and a pilot clinical study in China

Journal of Genetics and Genomics 2022年第1期49卷 13-19页

作者： 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 Beijing Key Laboratory for Genetics of Birth Defects Beijing Pediatric Research InstituteBeijing 100045China MOE Key Laboratory of Major Diseases in Children Beijing 100045China Rare Disease Center National Center for Children’s HealthBeijing 100045China Beijing Children’s Hospital Capital Medical UniversityBeijing 100045China Shunyi Women and Children’s Healthcare Hospital of Beijing Children’s Hospital Beijing 101300China Liuzhou Maternal and Child Healthcare Hospital LiuzhouGuangxi 545001China Wuhan Maternal and Child Healthcare Hospital Tongji Medical CollegeHuazhong University of Science&TechnologyWuhanHubei 430016China Inner Mongolia Maternity and Child Healthcare Hospital HohhotInner Mongolia Autonomous Region 010020China Qingdao Women and Children’s Hospital QingdaoShandong 266012China Qinghai Maternal and Child Health Hospital XiningQinghai 810007China Guiyang Maternity and Child Healthcare Hospital GuiyangGuizhou 550003China Urumqi First People’s Hospital UrumqiXinjiang 830011China

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.

关键词： Newborn screening Next-generation sequencing targeted sequencing Monogenic disorders Clinical practice

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Prenatal Diagnosis of Ellis-van Creveld Syndrome by targeted sequencing

引用

Chinese Medical Journal 2016年第15期129卷 1882-1883页

作者： Xiao-Yan Hao Chun-Na Fan Yi-Hua He Jing-Lan Liu Shu-Ping Ge Department of Cardiograph Capital Medical University Affiliated Beijing Anzhen Hospital Beijing 100029 China Tianjin Translational Genomics Center BGI-Tianjin BGI-Shenzhen Tianjin 300308 China Department of Pediatric Cardiology St Christopher's Children's Hospital Philadelphia USA

To the Editor： Ellis van Creveld （EvC） syndrome is a rare, autosomal recessive skeletal dysplasia with the prevalence of 1/60,000 approximatelyJu It is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails/teeth, and congenital heart defects （CHD） which were observed in about 60% of affected individuals. Mutations in genes EHCoF EVC2 have been identified in two-thirds of patients with EvC syndrome.

关键词： Ellis-van Creveld Syndrome targeted sequencing

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Integrated facial analysis and targeted sequencing identifies a novel KDM6A pathogenic variant resulting in Kabuki syndrome

引用

Journal of Bio-X Research 2018年第3期1卷 140-146页

作者： Weihui Shi Yiyao Chen Songchang Chen Shuyuan Li Chunxin Chang Lanlan Zhang Hongjun Fei Hefeng Huang Junyu Zhang Chenming Xu International Peace Maternity and Child Health Hospital Institute of Embryo-Fetal Original Adult Disease Affiliated to Shanghai Jiao Tong University School of MedicineShanghaiChina

Kabuki syndrome(KS)is a rare congenital mental retardation condition characterized by facial dysmorphia,visceral and skeletal malformations,and developmental *** integrated phenotype and genotype-based prioritization is critical for diagnoses of genetic *** this study,a Chinese woman,presenting with characteristic facial features of KS,came for pre-pregnancy *** aimed to clarify the diagnosis and provide pre-pregnancy genetic *** dysmorphology analysis and next-generation sequencing-based multigene panel approach were used to identify candidate syndromes and causative variants,*** candidate variant was verified by Sanger *** identified a novel de novo KDM6A pathogenic variant(c.3521G>A)in the woman,which was in line with the Face2Gene analysis *** blood RNA assay showed that the variant transcript underwent the nonsense-mediated mRNA decay and led to subsequent haploinsufficiency of *** study provides the genetic diagnosis method for KS type 2 and identifies the first KDM6A point variant in Chinese patient.

关键词： facial analysis Kabuki syndrome type 2 RNA assay targeted sequencing

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

targeted deep sequencing reveals the genetic heterogeneity in well-differentiated pancreatic neuroendocrine tumors with liver metastasis

引用

Hepatobiliary Surgery and Nutrition 2023年第3期12卷 302-313,I0001-I0005页

作者： Wentao Zhou Xu Han Yuan Ji Dansong Wang Dong Xie Zilong Qiu Wenhui Lou Department of Pancreatic Surgery Zhongshan HospitalFudan UniversityShanghaiChina Department of Pathology Zhongshan HospitalFudan UniversityShanghaiChina CAS Key Laboratory of Nutrition Metabolism and Food SafetyShanghai Institute of Nutrition and HealthUniversity of Chinese Academy of SciencesChinese Academy of SciencesShanghaiChina Institute of Neuroscience State Key Laboratory of NeuroscienceChinese Academy of Sciences Center for Excellence in Brain Science and Intelligence TechnologyChinese Academy of SciencesShanghaiChina Department of General Surgery Qingpu Branch of Zhongshan Hospital Affiliated to Fudan UniversityShanghaiChina

Background:Pancreatic neuroendocrine tumor is a rare and heterogeneous entity,and approximately half of the patients harbored liver metastasis when initially diagnosed,whose prognosis is ***-throughput sequencing has largely uncovered the genomic features of pancreatic neuroendocrine tumor,but the genetic alterations in the metastatic cases remain relatively unclear,which we aimed to ***:Pathologically confirmed well-differentiated pancreatic neuroendocrine tumor samples resected in our hospital from 2000 to 2019 were *** performed deep sequencing on the exome of 341 tumor-related genes,and compared the differences of genetic alterations between the metastatic and the non-metastatic cases,as well as between the primary and the paired liver metastatic ***:sequencing data of 79 samples from 29 pancreatic neuroendocrine tumor patients were included into analysis.A total of 2,471 somatic variants were identified,75.5%of which were considered as ***1 was the most frequently mutated gene,altered in 26(53.1%)pancreatic neuroendocrine tumor samples from 18(62.1%)*** with the non-metastatic pancreatic neuroendocrine tumors,the metastatic cases were discovered with more single nucleotide variants and copy number variations,indicating the increased genomic *** addition,among the paired metastatic cases,the primary and the metastatic lesions shared limited mutated ***:Through the targeted deep sequencing,we identified the intratumor,intraindividual,and interindividual heterogeneity in the pancreatic neuroendocrine tumor patients,particularly in the metastatic cases,bringing potential challenges for the current biopsy strategies in guiding clinical treatments.

关键词： Pancreatic neuroendocrine tumor(pNET) liver metastasis targeted sequencing genomic alteration heterogeneity

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

A comparative genomics analysis of lung adenocarcinoma for Chinese population by using panel of recurrent mutations

引用

The Journal of Biomedical Research 2021年第1期35卷 11-20,I0001-I0004页

作者： Wanlin Li Min Wu Qianqian Wang Kun Xu Fan Lin Qianghu Wang Renhua Guo Department of Bioinformatics Nanjing Medical UniversityNanjingJiangsu 211166China Department of Oncology the First Affiliated Hospital of Nanjing Medical UniversityNanjingJiangsu 210029China Department of Cell Biology School of Basic Medical SciencesNanjing Medical UniversityNanjingJiangsu 211166China Jiangsu Key Lab of Cancer Biomarkers Prevention and TreatmentCollaborative Innovation Center for Cancer Personalized MedicineNanjingJiangsu 211166China.

Previous studies have demonstrated that Chinese lung adenocarcinoma(LUAD)patients have unique genetic characteristics,however,the specific genomic features relating to the development and treatment of LUAD in the Chinese population are not fully ***,we applied the ultra-deep targeted sequencing to 66 Chinese LUAD samples,accompanied by comparative analysis with 162 Caucasian LUAD in The Cancer Genome *** focused on the 68 recurrently mutated genes and results revealed that the panel-based tumor mutational burden(pTMB)is significantly higher in the Chinese LUAD(P=0.0017).Additionally,the percentage of smoking-associated C>A transversion is significantly lower in Chinese LUAD(15.5%vs.39.7%,P=5.69×10^(-27)),while C>T transition is more frequent in Chinese LUAD(35.8%vs.25.7%,P=2.67×10^(-5)),which indicated the ethnic difference in mutation ***,novel driver genes(GNAS and JAK1)that are peculiar to Chinese LUAD were identified,and a more convergent distribution of mutations was observed in the Chinese cohort(P=0.012)compared with scattered mutations in Caucasian *** results present a distinct genomic profile of Chinese LUAD compared to Caucasians LUAD and elucidate the ethnic difference in mutation distribution besides the type and rate.

关键词： lung adenocarcinoma Chinese population ethnic difference genomic characteristics targeted sequencing

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Next generation sequencing of DNA pools

Next generation sequencing of DNA pools

引用

“农业健康与环境”组学大数据整合生物信息学研讨会

作者：王晟 College of Life Information Science and Instrument Engineering Hangzhou Dianzi University

Large scale sequencing is still economically challenging despite falling costs of next generation ***-seq provides a cost-effective alternative to sequencing individuals ***,it creates new problems and challenges for accurate variant call and allele frequency *** review several robust and reliable strategies and methods for pooled NGS.

关键词： targeted sequencing Target enrichment HaloPlex Single nucleotide variant Next generation sequencing Pooled sequencing

来源： cnki会议评论

在线全文

cnki会议

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：