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).