Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene.
Yongan TianHongen XuDanhua LiuJuanli ZhangZengguang YangSen ZhangHuanfei LiuRuijun LiYingtao TianBeiping ZengTong LiQianyu LinHaili WangXiaohua LiWei LuYing ShiYan ZhangHui ZhangChang JiangYing XuBei ChenJun LiuWenxue TangPublished in: Molecular genetics & genomic medicine (2021)
Our diagnostic panel has an increased diagnostic yield with less cost, and the curated list of pathogenic variants in the SLC26A4 gene can be directly used to aid the genetic counseling to patients.
Keyphrases
- copy number
- genome wide
- end stage renal disease
- newly diagnosed
- ejection fraction
- chronic kidney disease
- peritoneal dialysis
- prognostic factors
- high throughput
- dna methylation
- real time pcr
- patient reported outcomes
- smoking cessation
- transcription factor
- human immunodeficiency virus
- circulating tumor
- genome wide analysis