CADD v1.7 and ClinGen CSpec tracks for hg19 and hg38

[Gerardo Perez]

Hello Everyone,

We are excited to announce two new tracks available for human assemblies hg38/GRCh38 and hg19/GRCh37.

Clingen CSpec Variant Interpretation VCEP Specifications

The ClinGen VCEP Specifications track identifies loci that have ClinGen criteria Specification (CSpec) information. This is used and applied by ClinGen Variant Curation Expert Panels (VCEPs) and biocurators in the classification of variants.

This track can be found in the existing ClinGen composite track. The data in this track updates weekly whenever new data is found in the ClinGen CSpec registry.

CADD 1.7 Scores for hg19 and hg38

The Combined Annotation Dependent Depletion (CADD) v1.7 tracks show scores for deleteriousness of single nucleotide variants as well as insertion/deletion variants in the GRCh37/hg19 and GRCh38/hg38 genomes. CADD v1.7 integrates advanced annotation features, including state-of-the-art protein language model scores (Meta ESM-1v), regulatory variant effect predictions derived from CNN models, and updated sequence conservation scores from the Zoonomia project.

CADD scores are freely available for all non-commercial applications from the CADD website. For commercial applications, see the license instructions there.

We would like to thank the CADD development team for providing precomputed data as simple tab-separated files. We would also like to thank Jeltje van Baren, Lou Nassar, and Gerardo Perez for the creation and release of these tracks.