A benchmark database for variations


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Structural variations

DATASET 1

Dataset for StrVCTVRE

Data are from ClinVar and gnomAD and an ape sequencing study.

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    Reference: Sharo A, Hu Z, Sunyaev S, Brenner S, StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants. Am J Hum Genet. 2022 Feb 3;109(2):195-209. doi: 10.1016/j.ajhg.2021.12.007..  PUBMED  


    Last updated: 2022-06-09 by Niloofar Shirvanizadeh.