Whole genome sequencing facilitates intragenic variant interpretation following modifier screening in C. elegans.

ABSTRACT:

Background

Intragenic modifiers (in-phase, second-site variants) are known to have dramatic effects on clinical outcomes, affecting disease attributes such as severity or age of onset. However, despite their clinical importance, the focus of many genetic screens in model systems is on the discovery of extragenic variants, with many labs still relying upon more traditional methods to identify modifiers. However, traditional methods such as PCR and Sanger sequencing can be time-intensive and do not permit a thorough understanding of the intragenic modifier effects in the context of non-isogenic genomic backgrounds.

Results

Here, we apply high throughput approaches to identify and understand intragenic modifiers using Caenorhabditis elegans. Specifically, we applied whole genom

SUBMITTER: Jean F 

PROVIDER: S-EPMC8590768 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature