Using synthetic chromosome controls to evaluate the sequencing of difficult regions within the human genome.

ABSTRACT:

Background

Next-generation sequencing (NGS) can identify mutations in the human genome that cause disease and has been widely adopted in clinical diagnosis. However, the human genome contains many polymorphic, low-complexity, and repetitive regions that are difficult to sequence and analyze. Despite their difficulty, these regions include many clinically important sequences that can inform the treatment of human diseases and improve the diagnostic yield of NGS.

Results

To evaluate the accuracy by which these difficult regions are analyzed with NGS, we built an in silico decoy chromosome, along with corresponding synthetic DNA reference controls, that encode difficult and clinically important human genome regions, including repeats, microsatellites, HLA genes, and immune rece

SUBMITTER: Reis ALM 

PROVIDER: S-EPMC8753822 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature