Exon Relevance RTS and gnomAD pext track for hg38

[Luis Nassar]

We are pleased to share our latest Recommended Track Set (RTS), Exon Relevance, and a new track, gnomAD Proportion Expression Across Transcript Scores (pext) for GRCh38/hg38.

Exon Relevance RTS

The Exon Relevance track set can be found in the blue bar menu (Genome Browser > Recommended Track Sets) on both the hg19 and hg38 browsers. This track set can assist in variant interpretation by evaluating if the variant is present in an exon required for function of the expressed gene product.

gnomAD Proportion Expression Across Transcript Scores (pext) for GRCh38/hg38

The hg38 gnomAD super track now includes the gnomAD pext datasets. This track displays isoform expression levels across 50 tissues from the Genotype Tissue Expression (GTEx) v10 dataset, showing a comprehensive view of the expression of exons across a gene using the proportion expression across transcripts, or pext metric, a transcript-level annotation metric which quantifies isoform expression for variants.

This is especially useful for those interested in alternative splicing and clinical assessment of variants. For more information, see the track description page and the associated publication.