WEScover helps users to check whether genes of interest could be sufficiently covered in terms of breadth and depth by whole exome sequencing (WES). For each transcript, breadth of coverage data was calculated at various read depth from the 1000 Genomes Project (1KGP) (N = 2,504). A user will be able to minimize the chance of false negatives by selecting a targeted gene panel test for the genes that WES cannot cover well.
Breadth and depth of coverage for NOTCH1 are illustrated below. For some of the exons, breadth of coverage seems to be sub-optimal that could result in false negative results with WES.
WEScover provides detailed coverage information including difference in breadth of coverage between continent-level populatios.
Phenotype, genetic test names, or gene symbols can be used to retrieve coverage information in the query window. The output summary helps users to choose WES vs. targeted gene panel testing.
Each consists of separate fst files for target depths: 5x, 10x, 15x, 20x, 25x, 30x, 50x, 100x.
Fraction of gnomAD exomes over 5x, 10x, 15x, 20x, 25x, 30x, 50x, 100x for each locus in CCDS genes (in bigwig format).
Contains all other data necessary to run WEScover locally.