Reference sequences

To identify genetic variations within a nucleic acid sample, sequencing reads are aligned to a reference genome sequence. Torrent Suite™ Software comes preloaded with reference genome files containing genomic sequences that represent several species, including two commonly used human genome references—hg19 and GRCh38. You can also import a custom reference file to use for your sequence analysis.

As part of the standard analysis process in Torrent Suite™ Software, reads are aligned to a genomic reference using the TMAP aligner that comes preinstalled on the Ion Torrent™ Server. For more information, see TMAP modules.