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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मुख्य लेखकों:	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
स्वरूप:	Artigo
भाषा:	Inglês
प्रकाशित:	BMC 2019-07-01
श्रृंखला:	Genome Medicine
विषय:	AOH CACNA1A CpG site Somatic mosaicism Genotype-phenotype correlation PI3K-AKT-mTOR pathway
ऑनलाइन पहुंच:	http://link.springer.com/article/10.1186/s13073-019-0658-2
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