Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing.

Shumin RenXiaojie ChenXiangdong KongYibing ChenQinghua WuZhihui JiaoHuirong Shi

Published in: Molecular genetics & genomic medicine (2020)

Results showed that targeted next-generation sequencing (NGS) enabled us to detect disease-causing mutations with high accuracy, stability, speed and throughput. Our study extends the pathogenic mutation spectrum of MITF and SOX10.

Keyphrases

copy number
stem cells
circulating tumor
transcription factor
cancer therapy
gene expression
drug delivery
bioinformatics analysis
cell free