Article
MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations.
BMC medical genomics - 12 Feb 2021
Doan Ryan N, Miller Michael B, Kim Sonia N, Rodin Rachel E, Ganz Javier, Bizzotto Sara, Morillo Katherine S, Huang August Yue, Digumarthy Reethika, Zemmel Zachary, Walsh Christopher A
Abstract excerpt
BACKGROUND: Mosaic mutations contribute to numerous human disorders. As such, the identification and precise quantification of mosaic mutations is essential for a wide range of research applications, clinical diagnoses, and early detection of cancers. Currently, the low-throughput nature of single allele assays (e.g., allele-specific ddPCR) commonly used for genotyping known mutations at very low alternate...
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