Guidelines for importing custom reference sequence files

The following guidelines are for preparing a new custom reference genome sequence file to be imported into Torrent Suite™ Software:

  • Download a FASTA format reference genome file and save it to your local storage. FASTA files can found at ncbi.nlm.nih.gov/genome.

  • The file selected for import must have a .fasta extension.

  • When working with larger genomes, performance improves if you compress the FASTA file. Torrent Suite™ Software supports ZIP and GZIP archive file formats, provided each archive file contains one FASTA file.

  • The variantCaller plugin does not support IUPAC base codes other than A, C, T, G, and N. When the software uploads a genome containing other IUPAC characters, each such character is replaced with N.

  • Prepare any related target regions, hotspots, and reference annotation files to upload with the reference genome file and save them to your local storage. For more information, see Target regions and hotspots files and Import reference sequence files.