...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Circulation. Genomic and precision medicine. >Long-Read Sequence Confirmed a Large Deletion Including MYH6 and MYH7 in an Infant of Atrial Septal Defect and Atrial Arrhythmias
【24h】

Long-Read Sequence Confirmed a Large Deletion Including MYH6 and MYH7 in an Infant of Atrial Septal Defect and Atrial Arrhythmias

机译：读序列确认删除包括MYH6和MYH7心房的一个婴儿中隔缺损和心房心律失常

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

MYH6 encoding a-cardiac myosin heavy chain is one of the responsible genes for atrial septal defect (ASD).1 Although single-nucleotide variants in MYH6 have been reported as the cause of ASD, there are few literatures describing DNA structural variants (SVs) which are defined as >50 bp regions of DNA showing deletions, insertions, duplications, inversions, or translocations. Short-read sequencing (SRS) can detect single-nucleotide variants with high accuracy but SVs with lower sensitivity2; therefore, it might overlook SVs. The read length feasible by long-read sequencing (LRS) is tens to thousands of kilobases, and LRS can detect the break points of complex SVs.3 In this study, we confirmed a large deletion extending from MYH6 to MYH7 including the break points in a family with inherited ASD, using both SRS and LRS.
机译：MYH6编码心脏肌凝蛋白重链就是其中之一负责任的心房中隔缺损的基因(ASD) 1。MYH6已报告是自闭症的原因,很少有文献描述DNA结构变异(sv)被定义为> 50个基点的DNA区域显示删除,插入,重复、倒置或易位。检测单核苷酸变异高但精度较低的sv sensitivity2;因此,它可能会忽略sv。可行的读测序(LRS)数万成千上万的碱基和LRS可以探测到复杂SVs.3的破发点确认删除从MYH6延伸至MYH7包括一个家庭的破发点使用SRS和LRS继承ASD。

著录项

相似文献

  • 外文文献
  • 中文文献
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号