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

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, few system...

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Bibliographic Details
Published in:Genome Med
Main Authors: Cao, Ye, Tokita, Mari J., Chen, Edward S., Ghosh, Rajarshi, Chen, Tiansheng, Feng, Yanming, Gorman, Elizabeth, Gibellini, Federica, Ward, Patricia A., Braxton, Alicia, Wang, Xia, Meng, Linyan, Xiao, Rui, Bi, Weimin, Xia, Fan, Eng, Christine M., Yang, Yaping, Gambin, Tomasz, Shaw, Chad, Liu, Pengfei, Stankiewicz, Pawel
Format: Artigo
Language:Inglês
Published: BioMed Central 2019
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Research
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6660700/
https://ncbi.nlm.nih.gov/pubmed/31349857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-019-0658-2
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