ExpansionHunter's catalogue creator
Create a custom variant catalogue for ExpansionHunter. You can either convert a BED file containing any STR loci into a variant catalogue or manually select known pathogenic loci from the list that you wish to target during your analysis.
Convert a BED file to variant catalogue
You can use a BED file or a tab/space-delimited text file with a maximum of approximately 1 million loci to convert it into a variant catalogue. Each locus must be placed on a new line, and the columns should include: 1) chromosome, 2) STR start position, 3) STR end position, 4) repeat unit, and 5) locus ID (optional). If the locus ID is missing, an ID will be generated based on the reference coordinates.
Example content of a regions file:
Loci in the catalogue