Novel variant annotations.
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https://figshare.com/articles/dataset/Novel_variant_annotations_/12944872
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资源简介：
Summary of novel variant functional effect annotations from the Variant Effect Predictor (VEP). The consequence types listed are as defined by the Sequence Ontology. The most severe consequences (i.e. at most one consequence per variant) are included. In addition, annotations generated with Combined Annotation Dependent Depletion (CADD) are presented. Specifically, the number of variants with a scaled CADD score above 20 and 30 are presented. A variant with a scaled CADD-score of 20 is predicted to be among the top 1% of most damaging mutations that can be done to the human genome. Conversely, a scaled score of 30 corresponds to the top 0.1% of the most damaging mutations.
(XLSX)
创建时间：
2020-09-11
