CADD-SV - A framework to score the effects of structural variants in health and disease

Required annotation data-set to run the CADD-SV framework; a method to retrieve and integrate a wide set of annotations to predict the effects of SVs. Pre-scored variants as well as additional information on used features. A webserver for online scoring as well as data downloads is available at: https://cadd-sv.bihealth.org/ Source code for CADD-SV is available at GitHub: https://github.com/kircherlab/CADD-SV

Keywords

FOS: Computer and information sciences, Bioinformatics, Variant Interpretation, Structural Variants

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