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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Gepubliceerd in:Genome Med
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2019
Onderwerpen:
Research
Online toegang: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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