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Annotating and Prioritizing Genomic Variants Using the Ensembl Variant Effect Predictor-A Tutorial

Sarah E. Hunt,Benjamin Moore,Ridwan M. Amode,Irina M. Armean,Diana Lemos,Aleena Mushtaq,Andrew Parton,Helen Schuilenburg,Michal Szpak,Anja Thormann,Emily Perry,Stephen J. Trevanion,Paul Flicek,Andrew D. Yates,Fiona Cunningham

HUMAN MUTATION（2022）

引用 23|浏览18
关键词
"molecular consequence",filtering,variant annotation,variant prioritisation,VEP
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