Journal of genetics | |
Clinical utility of a 377 gene custom next-generation sequencing epilepsy panel | |
JEN_BEVILACQUA1  | |
关键词: epilepsy; next-generation sequencing panels; clinical utility; read depth; yield.; | |
DOI : | |
学科分类:生物科学(综合) | |
来源: Indian Academy of Sciences | |
【 摘 要 】
Epilepsy is one of the most common neurological disorders with about 500 genes thought to be involved across the phenotypic spectrum (Busch et al. 2014; Ran et al. 2014), which includes monogenic, multigenic, epistatic and pleiotropic phenotype manifestations (Busch et al. 2014; Thomas et al. 2014), driving the need for a comprehensive diagnostic test. Next-generation sequencing (NGS) allows for the simultaneous investigation of a large number of genes, making it a very attractive option for a condition as diverse as epilepsy at a low cost compared to traditional Sanger sequencing (Lemke et al. 2012; Németh et al. 2013). Our 377 gene epilepsy NGS test was developed to include genes known to cause or have published association with epilepsy and seizure-related disorders. Given the scale of information that is generated, the efficacy of an NGS panel depends on a number of factors, including the genes present on the panel, prebioinformatic and postbioinformatic analysis protocols, as well as reporting criteria, prompting the current study, a retrospective analysis of 305 cases tested for the epilepsy panel.
【 授权许可】
CC BY
【 预 览 】
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RO201902019178490ZK.pdf | 22324KB | download |