A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Abstract Background Although mosaic variation has been known to cause disease for decades, high-throughput sequencing technologies with the analytical sensitivity to consistently detect variants at reduced allelic fractions have only recently emerged as routine clinical diagnostic tests. To date, fe...

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Bibliographic Details
Main Authors: Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz
Format: Article
Language:English
Published: BMC 2019-07-01
Series:Genome Medicine
Subjects:
AOH
CACNA1A
CpG site
Somatic mosaicism
Genotype-phenotype correlation
PI3K-AKT-mTOR pathway
Online Access:http://link.springer.com/article/10.1186/s13073-019-0658-2

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http://link.springer.com/article/10.1186/s13073-019-0658-2

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