Accurate genomic variant detection in single cells with primary template-directed amplification.

ABSTRACT: Improvements in whole genome amplification (WGA) would enable new types of basic and applied biomedical research, including studies of intratissue genetic diversity that require more accurate single-cell genotyping. Here, we present primary template-directed amplification (PTA), an isothermal WGA method that reproducibly captures >95% of the genomes of single cells in a more uniform and accurate manner than existing approaches, resulting in significantly improved variant calling sensitivity and precision. To illustrate the types of studies that are enabled by PTA, we developed direct measurement of environmental mutagenicity (DMEM), a tool for mapping genome-wide interactions of mutagens with single living human cells at base-pair resolution. In addition, we utilized PTA for genome-wide of

SUBMITTER: Gonzalez-Pena V 

PROVIDER: S-EPMC8214697 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature