检索结果-南通市图书馆

AluScanCNV2:An R package for copy number variation calling and cancer risk prediction with next-generation sequencing data

引用

Genes & Diseases 2019年第1期6卷 43-46页

作者： Taobo Hu Si Chen Ata Ullah Hong Xue Division of Life Science Applied Genomics Centre and Centre for Statistical ScienceHong Kong University of Science and TechnologyClear Water BayHong Kong School of Basic Medicine and Clinical Pharmacy China Pharmaceutical UniversityNanjingChina

The usage of next-generation sequencing(NGS)to detect copy number variation(CNV)is widely accepted in cancer *** on an AluScanCNV software developed by us previously,an AluScanCNV2 software has been developed in the present study as an R package that performs CNV detection from NGS data obtained through AluScan,wholegenome sequencing or other targeted NGS *** applications would include the expedited usage of somatic CNVs for cancer subtyping,and usage of recurrent germline CNVs to perform machine learning-assisted prediction of a test subject’s susceptibility to cancer.

关键词： AluScan Bioinformatics cancer subtyping cancer predisposition Machine learning

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

Hereditary cancer syndromes

引用

World Journal of Clinical Oncology 2023年第2期14卷 40-68页

作者： Evgeny N Imyanitov Ekaterina S Kuligina Anna P Sokolenko Evgeny N Suspitsin Grigoriy A Yanus Aglaya G Iyevleva Alexandr O Ivantsov Svetlana N Aleksakhina Department of Tumor Growth Biology N.N.Petrov Institute of OncologySt.-Petersburg 197758Russia Department of Clinical Genetics St.-Petersburg Pediatric Medical UniversitySt.-Petersburg 194100Russia

Hereditary cancer syndromes(HCSs)are arguably the most frequent category of Mendelian genetic diseases,as at least 2%of presumably healthy subjects carry highly-penetrant tumor-predisposing pathogenic variants(PVs).Hereditary breast-ovarian cancer and Lynch syndrome make the highest contribution to cancer morbidity;in addition,there are several dozen less frequent types of familial *** development of the majority albeit not all hereditary malignancies involves two-hit mechanism,*** somatic inactivation of the remaining copy of the affected *** studies on cancer families suggested nearly fatal penetrance for the majority of HCS genes;however,population-based investigations and especially large-scale next-generation sequencing data sets demonstrate that the presence of some highly-penetrant PVs is often compatible with healthy *** cancer research initially focused mainly on cancer detection and *** studies identified multiple HCS-specific drug vulnerabilities,which translated into the development of highly efficient therapeutic options.

关键词： Hereditary cancer syndromes Germline pathogenic variants cancer predisposition cancer treatment Next-generation 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：