Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients

Verdez S.; Garret P.; Tisserant E.; Vitobello A.; Mau-Them F. Tran; Philippe C.; Bardou M.; Luu M.; Albuisson J.; Verstuyft C.; Callier P.; Thauvin-Robinet C.; Faivre L.; Picard N.; Duffourd Y.

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Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients

机译：Exome测序允许检测癫痫患者的相关药物发生变体

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来源
《Fundamental & clinical pharmacology.》 |2021年第s1期|共2页
作者
Verdez S.; Garret P.; Tisserant E.; Vitobello A.; Mau-Them F. Tran; Philippe C.; Bardou M.; Luu M.; Albuisson J.; Verstuyft C.; Callier P.; Thauvin-Robinet C.; Faivre L.; Picard N.; Duffourd Y.;
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作者单位

CHU Dijon Dijon France;

GAD Inserm Dijon Dijon France;

GAD Inserm Dijon Dijon France;

GAD Inserm Dijon Dijon France;

GAD Inserm Dijon Dijon France;

CHU Dijon Dijon France;

CHU Dijon Dijon France;

CHU Dijon Dijon France;

CGFL Dijon Dijon France;

APHP Paris Paris France;

CHU Dijon Dijon France;

CHU Dijon Dijon France;

CHU Dijon Dijon France;

CHU Limoges Limoges France;

GAD Inserm Dijon Dijon France;

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正文语种 eng
中图分类药理学;
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1. Whole-exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non-compaction cardiomyopathy [J] . Qiqing Sun, Jun Guo, Chanjuan Hao, 儿科学（英文） . 2020,第001期
2. Compound heterozygous variants in POR gene identified by whole-exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency [J] . Chanjuan Hao, Jun Guo, Ruolan Guo, 儿科学（英文） . 2018,第002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. 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
5. Compound heterozygous variants in POR gene identified by whole-exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency [J] . Chanjuan Hao, Jun Guo, Ruolan Guo, 儿科学研究（英文） . 2018,第002期
6. Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders [J] . Pfundt Rolph, del Rosario Marisol, Vissers Lisenka E. L. M., Genetics in medicine . 2017,第6期

机译：在大型遗传障碍队列中exome测序检测临床相关的拷贝数变体
7. Detection of clinically relevant copy number variants with whole-exome sequencing [J] . deLigtJ., BooneP.M., PfundtR., Human mutation . 2013,第10期

机译：使用全外显子组测序检测临床相关的拷贝数变异
8. Clinically relevant copy-number variants in exome sequencing data of patients with dystonia [J] . Zech Michael, Boesch Sylvia, Skorvanek Matej, Parkinsonism & related disorders . 2021,第1期

机译：患有肌瘤患者EXMES测序数据的临床相关拷贝数变体
9. ERDS-pe: A paired hidden Markov model for copy number variant detection from whole-exome sequencing data [C] . Renjie Tan, Jixuan Wang, Xiaoliang Wu, IEEE International Conference on Bioinformatics and Biomedicine . 2016

机译：ERDS-pe：配对的隐马尔可夫模型，用于从全外显子组测序数据中检测拷贝数变异
10. Statistical Analysis of Genetic Sequence Variants in Whole Exome Sequencing Data from Patients with Prostate Cancer [D] . Ofori-Minta, Kelvin. 2021

机译：从前列腺癌患者的整个外壳测序数据中遗传序列变异的统计分析
11. Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders [O] . Rolph Pfundt, Marisol del Rosario, Lisenka E.L.M. Vissers, -1

机译：在大量遗传性疾病人群中通过外显子组测序检测临床相关的拷贝数变异
12. Faculty Opinions recommendation of Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. [O] . Heather Mefford 2020

机译：教师意见推荐检测临床相关的拷贝数变体的推荐，以大量的遗传紊乱队列的exome测序。
13. Comparison of Epileptic and Non-Epileptic Patients on the Bourdon-Wiersma Stipple Test [R] . Johnson, L. C., Roberts, C. 1966

机译：Bourdon-Wiersma点画试验中癫痫患者和非癫痫患者的比较

Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients

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