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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660700/
https://www.ncbi.nlm.nih.gov/pubmed/31349857
http://dx.doi.org/10.1186/s13073-019-0658-2

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