Evidence builder

This page is a work in progress. I publish this intermediate version to demonstrate the purpose and for discussion with both data curators and front-end devs.

Shown here: two randomly chosen coding variants in DDX58.
Annotation table: Default output from variant annotation.
Top: protein-coding functional data with coding positions. Protein annotations match that of Uniprot:ENST00000379883; ENSP00000369213; ENSG00000107201 [O95786-1].
Bottom: transcript sequence data with genomic coordinates, GRCh37. Blue dotted lines indicate the variants of interest. The canonical transcript ENST00000379883.2 is indicated by the green diamond.

Under dev and coming soon:
✅ Hover tip annotations for all positions.
✍️ Browsable variant evidence table.
✍️ Internal links to gene evidence finder and variant evidence finder.
✋ External links to all evidence sources that have been used for analysis; 141db prepared but unlinked e.g. gnomAD dbNSFP VEP ClinVar ClinGen HGMD and many more including the top pathogenicity prediction databases.
✅ Data prep and AWS server.
✍️ Crosslinking.
✍️ Automated protocols for evidence scores.
✍️ ACMG standards and guidelines for the interpretation of sequence variants (doi:10.1038/gim.2015.30).
✅ All-coding VEP and dbNSFP annotation pipeline.
✅ Account for hg18, hg19 and GRCh38.
✅ Annotation databases are updating live.
✅ Annotation graph protocols are available (demo).

Bookmark this page to return for future updates containing the full genome public version. Protein visualisation using iCn3D by Wang J, et al. Bioinformatics 2020.