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

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...

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Detalles Bibliográficos
Autores principales: Jean, Francesca, Stasiuk, Susan, Maroilley, Tatiana, Diao, Catherine, Galbraith, Andrew, Tarailo-Graovac, Maja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8590768/
https://www.ncbi.nlm.nih.gov/pubmed/34773966
http://dx.doi.org/10.1186/s12864-021-08142-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8590768/
https://www.ncbi.nlm.nih.gov/pubmed/34773966
http://dx.doi.org/10.1186/s12864-021-08142-8

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