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...
Guardado en:
Autores principales: | Francesca Jean, Susan Stasiuk, Tatiana Maroilley, Catherine Diao, Andrew Galbraith, Maja Tarailo-Graovac |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
BMC
2021
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Materias: | |
Acceso en línea: | https://doaj.org/article/89e331a0c6c34531acfc0e878d10e41d |
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