Beyond Gene Panels Whole Exome Sequencing for Diagnosis of CongenitalHeart Disease

Sharon L. Paige; Priyanka Saha; James R. Priest

首页> 外文期刊>Circulation. Genomic and precision medicine. >Beyond Gene Panels Whole Exome Sequencing for Diagnosis of CongenitalHeart Disease

【24h】

Beyond Gene Panels Whole Exome Sequencing for Diagnosis of CongenitalHeart Disease

机译：除了基因面板全外显子组测序CongenitalHeart疾病的诊断

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

Driven by next-generation sequencing, rapid advances in our knowledge of inherited cardiovascular diseases have greatly improved our ability to make molecular diagnoses. Focused gene panels covering select sets of genes implicated in a specific disease are the mainstay of clinical genetic testing. Panel testing has proven to be successful in the diagnosis and management of Mendelian diseases attributable to a single gene such as cystic fibrosis or a limited number of genes as in the case of several cardiomyopathies, channelopathies, and connective tissue disorders. Although gene panels have diagnostic rates surpassing 70% for some inherited cardiovascular diseases, the utility of gene panels has not translated as effectively to the detection of diseases characterized by more complex genetic architecture such as congenital heart disease (CHD).

机译：由下一代测序,迅速的进步我们的知识的继承心血管疾病我们有了很大的提高使分子诊断的能力。面板覆盖选择的基因集在一个特定的疾病的支柱临床基因检测。诊断和被证明是成功的孟德尔疾病归因于管理如囊肿性纤维化或单个基因有限数量的基因数心肌病、channelopathies和连接组织障碍。对于一些诊断率超过70%继承了心血管疾病的效用没有翻译成有效基因面板疾病的检测更多的特征先天性等复杂的遗传结构心脏病(冠心病)。

著录项

来源
《Circulation. Genomic and precision medicine.》 |2018年第3期|e002097-e002097|共1页
作者
Sharon L. Paige; Priyanka Saha; James R. Priest;
展开▼
作者单位

Division of Pediatric Cardiology, Department of Pediatrics;

展开▼
收录信息
原文格式 PDF
正文语种英语
中图分类
关键词
whole exome sequencing; Genetic Testing; Congenital Heart DefectsDevice PanelNUMB geneConnective Tissue DiseasesDiagnosis;

机译：全外显子组测序,基因检测;先天性心DefectsDevice PanelNUMB geneConnective组织DiseasesDiagnosis;

相似文献

外文文献
中文文献

1. Robust Genetic Diagnosis of Split Hand–Foot Malformation by Exome Sequencing [J] . Hengqing CUI, Zhengsheng CHEN, Li CHEN, 中国整形与重建外科(英文) . 2020,第001期
2. Robust Genetic Diagnosis of Split Hand–Foot Malformation by Exome Sequencing [J] . Hengqing CUI, Zhengsheng CHEN, Li CHEN, 中国整形与重建外科（英文） . 2020,第001期
3. Identification of a LMNA (c.646C＞T) variant by whole-exome sequencing in combination with a dilated cardiomyopathy (DCM) related gene filter in a family with familiar DCM [J] . Liang Chen, Zhongyin Zhou, Huihe Lu, 生物医学研究杂志（英文版） . 2018,第004期
4. Understanding Exome Sequencing: Tips for the Pediatrician [J] . Dhanya Lakshmi Narayanan, Katta Mohan Girisha Indian Pediatrics . 2021,第8期

机译：了解Exome Sequencing：儿科医生提示
5. Exome sequencing identifies novel missense and deletion variants inRTN4IP1associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis [J] . DGama Alissa M., England Eleina, Madden Jill A., American journal of medical genetics, Part A . 2021,第1期

机译：Exome Sequencing识别inrtn4ip1和删除变体与视神经萎缩，全球发育延迟，癫痫，共济失调和思科的删除变体识别
6. Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 MYO6 as the Cause of Deafness in a Brazilian Family [J] . Sampaio‐Silva Juliana, Batissoco Ana Carla, Jesus‐Santos Rafaela, Annals of Human Genetics . 2018,第1期

机译：Exome Sequencing识别Myo6 Myo6的新型无意义突变，作为巴西家庭中耳聋的原因
7. Extracting Relationship Both Gene2Disease and Gene2Gene from Biomedical Literatures [C] . Gong Le-Jun, Sun Xiao 2010 4th International Conference on Bioinformatics and Biomedical Engineering . 2010

机译：从生物医学文献中提取Gene2Disease和Gene2Gene的关系
8. Corrigendum to ‘Bmi-1: At the crossroads of physiological and pathological biology’ Genes Diseases 2 (2015) 225–239 [O] . Resham Bhattacharya, Soumyajit Banerjee Mustafi, Mark Street, 2015

机译：Bmi-1：在生理和病理生物学的十字路口勘误表Genes＆Diseases 2（2015）225–239
9. Bayesian approach to transforming public gene expression repositories into disease diagnosis databases [O] . Huang, H.Y., Liu, C.C., Zhou, X.J., 2014

机译：Bayesian approach to transforming public gene expression repositories into disease diagnosis databases

Beyond Gene Panels Whole Exome Sequencing for Diagnosis of CongenitalHeart Disease

摘要

著录项

相似文献

相关主题

期刊订阅