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 d...

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Bibliographic Details
Main Authors: Francesca Jean, Susan Stasiuk, Tatiana Maroilley, Catherine Diao, Andrew Galbraith, Maja Tarailo-Graovac
Format: article
Language:EN
Published: BMC 2021
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Online Access:https://doaj.org/article/89e331a0c6c34531acfc0e878d10e41d
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