检索结果-南通市图书馆

Advances in clinical genetics and genomics

Intelligent Medicine 2021年第3期1卷 128-133页

作者： Sen Zhao Xi Cheng Wen Wen Guixing Qiu Terry Jianguo Zhang Zhihong Wu Nan Wu Department of Orthopedic Surgery State Key Laboratory of Complex Severe and Rare DiseasesPeking Union Medical College HospitalChinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing 100730China Beijing Key Laboratory for Genetic Research of Skeletal Deformity Beijing 100730China Key Laboratory of Big Data for Spinal Deformities Chinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing 100730China Medical Research Center Peking Union Medical College HospitalChinese Academy of Medical SciencesPeking Union Medical CollegeBeijing 100730China State Key Laboratory of Complex Severe and Rare Diseases Peking Union Medical College HospitalChinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing100730China

Developments in genetics and genomics are progressing at an unprecedented *** years ago,the human genome project provided the first glimpses into the human genome sequence and launched a new era of human *** emerging of next-generation sequencing(NGS)in 2005 then made possible comprehensive genetic testing such as exome sequencing and genome ***,great efforts have been put into the optimization of bioinformatic pipelines to make increasingly speedy and accurate variant analyses based on NGS *** advances in sequencing technologies and analytical methods have revolutionized the diagnostic odyssey of suspected hereditary *** recently,the genotype-phenotype relationship and polygenic risk scores(PRSs)generated from genome-wide association studies have expanded our horizon from rare genetic mutations to a genomic landscape implicated by the combined effect of both rare variants and *** the same time,clinicians and genetic counselors are facing huge challenges conferred by overwhelming genomic knowledge and long sheets of testing reports for comprehensive genomic *** path toward the“next-generation”clinical genetics and genomics may underlie semiautomatic pipelines assisted by artificial intelligence techniques.

关键词： clinical genetics clinical genomics Next-generation sequencing Polygenic diseases

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

Identification of rare PTCH1 nonsense variant causing orofacial cleft in a Chinese family and an up-to-date genotype- phenotype analysis

引用

Genes & Diseases 2021年第5期8卷 689-697页

作者： Wenjie Zhong Huaxiang Zhao Wenbin Huang Mengqi Zhang Qian Zhang Yue Zhang Chong Chen Zulihumaer Nueraihemaiti Dilifeire Tuerhong Huizhe Huang Gulibaha Maimaitili Feng Chen Jiuxiang Lin Department of Orthodontics Peking University School and Hospital of StomatologyBeijing100081PR China Central Laboratory Peking University School and Hospital of StomatologyBeijing100081PR China Department of Stomatology The Fifth Affiliated Hospital of Xinjiang Medical UniversityUrumqi830000PR China Xinjiang Medical University Urumqi830000PR China Chongqing Medical University Chongqing400016PR China Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research Department of Orthodontics College of StomatologyXi’an Jiaotong UniversityXi’an 710004PR China

The Patched 1(PTCH1)gene encodes a membrane receptor involved in the Hedge-hog(Hh)signaling pathway,an abnormal state of which may result in congenital defects or hu-man *** this study,we conducted whole-exome sequencing on a three-generation Chinese family characterized with variable penetrance of orofacial clefts.A rare heterozygous variant in the PTCH1 gene(c.2833C>T p.R945X)was identified as a disease-associated *** modeling revealed a truncation starting from the middle of the second extracellular domain of PTCH1 *** may damage its ligand recognition and sterol transportation abilities,thereby affecting the Hh signaling *** assays indi-cated that the R945X protein had reduced stability compared to the wild-type in *** addi-tion,we reviewed the locations and mutation types of PTCH1 variants in individuals with clefting phenotypes,and analyzed the associations between clefts and locations or types of variants within *** findings provide further evidence that PTCH1 variants result in or-ofacial clefts,and contributed to genetic counseling and clinical surveillance in this family.

关键词： Cleft lip with or without palate clinical genetics Genotype-phenotype analysis PTCH1 Whole-exome sequencing

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

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

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

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：