A comparison of BeadChip and WGS genotyping outputs using partial validation by sanger sequencing.

ABSTRACT:

Background

Head-to-head comparison of BeadChip and WGS/WES genotyping techniques for their precision is far from straightforward. A tool for validation of high-throughput genotyping calls such as Sanger sequencing is neither scalable nor practical for large-scale DNA processing. Here we report a cross-validation analysis of genotyping calls obtained via Illumina GSA BeadChip and WGS (Illumina HiSeq X Ten) techniques.

Results

When compared to each other, the average precision and accuracy of BeadChip and WGS genotyping techniques exceeded 0.991 and 0.997, respectively. The average fraction of discordant variants for both platforms was found to be 0.639%. A sliding window approach was utilized to explore genomic regions not exceeding 500 bp encompassing a maximal amount of dis

SUBMITTER: Danilov KA 

PROVIDER: S-EPMC7488117 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature