Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy

Nomura Akihiro; Tada Hayato; Teramoto Ryota; Konno Tetsuo; Hodatsu Akihiko; Won Hong-Hee; Kathiresan Sekar; Ino Hidekazu; Fujino Noboru; Yamagishi Masakazu; Hayashi Kenshi

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Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy

机译：完整的外显子组测序与整合的变体注释预测相结合，鉴定出肥厚型心肌病的致病性肌球蛋白必需轻链变体

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Background: The development of candidate gene approaches to enable molecular diagnosis of hypertrophic cardiomyopathy (HCM) has required extensive and prolonged efforts. Whole exome sequencing (WES) technologies have already accelerated genetic studies of Mendelian disorders, yielding approximately 30% diagnostic success. As a result, there is great interest in extending the use of WES to any of Mendelian diseases. This study investigated the potential of WES for molecular diagnosis of HCM.

机译：背景：开发能够进行肥厚性心肌病（HCM）分子诊断的候选基因方法需要广泛而长期的努力。完整外显子组测序（WES）技术已经加速了孟德尔疾病的遗传研究，诊断成功率约为30％。结果，人们对将WES的使用扩展到任何孟德尔疾病抱有极大的兴趣。这项研究调查了WES在HCM分子诊断中的潜力。

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来源
《Journal of cardiology》 |2016年第2期|共7页
作者
Nomura Akihiro; Tada Hayato; Teramoto Ryota; Konno Tetsuo; Hodatsu Akihiko; Won Hong-Hee; Kathiresan Sekar; Ino Hidekazu; Fujino Noboru; Yamagishi Masakazu; Hayashi Kenshi;
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正文语种 eng
中图分类心脏、血管（循环系）疾病;
关键词
Hypertrophic cardiomyopathy; Myosin essential light chain; Whole exome sequencing; Bioinformatics;

机译：肥厚型心肌病;肌球蛋白必需轻链;全外显子组测序;生物信息学;

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1. Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy [J] . Nomura Akihiro, Tada Hayato, Teramoto Ryota, Journal of cardiology . 2016,第1a2期

机译：完整的外显子组测序与整合的变体注释预测相结合，鉴定出肥厚型心肌病的致病性肌球蛋白必需轻链变体
2. Candidate genes identified by whole-exome sequencing in preeclampsia families: insights into functional annotation and in-silico prediction of deleterious variants [J] . Linhares Natalia D., Conceicao Izabela M. C. A., Sandrim Valeria C., Journal of hypertension . 2020,第2期

机译：先兆子痫系列全外膜测序鉴定的候选基因：对功能注释的见解和不同的有害变种的硅质预测
3. Candidate genes identified by whole-exome sequencing in preeclampsia families: insights into functional annotation and in-silico prediction of deleterious variants [J] . Ecological restoration . 2020,第2期

机译：先兆子痫系列全外膜测序鉴定的候选基因：对功能注释的见解和不同的有害变种的硅质预测
4. Whole Exome Sequencing Approach to Identify Genetic Variants Causing Sudden Unexplained Death Syndrome [C] . Seok-Hwee Koo, Paul Chui, Chee Seng Ku, Molecular Medicine TRI-CON. . 2014

机译：识别遗传变异突然未解释的死亡综合征的整体exome测序方法
5. The Role of Cardiac Myosin Binding Protein C3 Variants in Hypertrophic Cardiomyopathy: Genotype - Phenotype Association in the Zebrafish Model [D] . Da'as, Sahar Isa. 2019

机译：心肌肌霉素结合蛋白C3变体在肥大心肌病中的作用：基因型 - 表型结合在斑马鱼模型中
6. Genetic variant affecting the myosin light chain 2 related to familial hypertrophic cardiomyopathy [O] . Wilmar Saldarriaga Gil, Laura Alejandra Ávila Vidal, Manuel Alejandro Vásquez Salguero, 2020

机译：影响肌球蛋白轻链2与家族性肥厚性心肌病相关的遗传变异
7. Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy [O] . Nomura Akihiro, Tada Hayato, Teramoto Ryota, 2016

机译：完整的外显子组测序与整合的变体注释预测相结合，鉴定出肥厚型心肌病的致病性肌球蛋白必需轻链变体

Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy

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