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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محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:Genome Med
المؤلفون الرئيسيون: 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
التنسيق: Artigo
اللغة:Inglês
منشور في: BioMed Central 2019
الموضوعات:
Research
الوصول للمادة أونلاين: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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