Single-cell somatic copy number variants in brain using different amplification methods and reference genomes.

ABSTRACT: The presence of somatic mutations, including copy number variants (CNVs), in the brain is well recognized. Comprehensive study requires single-cell whole genome amplification, with several methods available, prior to sequencing. We compared PicoPLEX with two recent adaptations of multiple displacement amplification (MDA): primary template-directed amplification (PTA) and droplet MDA, across 93 human brain cortical nuclei. We demonstrated different properties for each, with PTA providing the broadest amplification, PicoPLEX the most even, and distinct chimeric profiles. Furthermore, we performed CNV calling on two brains with multiple system atrophy and one control brain using different reference genomes. We found that 38% of brain cells have at least one Mb-scale CNV, with some supported b

SUBMITTER: Kalef-Ezra E 

PROVIDER: S-EPMC10441336 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature