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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Auteurs principaux: Francesca Jean, Susan Stasiuk, Tatiana Maroilley, Catherine Diao, Andrew Galbraith, Maja Tarailo-Graovac
Format: article
Langue:EN
Publié: BMC 2021
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Accès en ligne:https://doaj.org/article/89e331a0c6c34531acfc0e878d10e41d
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