Work

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

Year: 2022

Type: dataset

Abstract: 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

Source: Zenodo (CERN European Organization for Nuclear Research)

DOI: 10.5281/zenodo.5963395

Authors: Kleinert, Philip, Kircher, Martin

Institutions: Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Charité – Universitätsmedizin Berlin

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

Open Access status: green

OpenAlex ID: W4393461135

Cites:

Cited by:

Related to: 10