ExpansionHunter
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Description
There are a number of regions in the human genome consisting of repetitions of short unit sequence (commonly a trimer). Such repeat regions can expand to a size much larger than the read length and thereby cause a disease. Fragile X Syndrome, ALS, and Huntington's Disease are well known examples.
Expansion Hunter aims to estimate sizes of such repeats by performing a targeted search through a BAM/CRAM file for reads that span, flank, and are fully contained in each repeat.
Environment Modules
Run module spider expansionhunter to find out what environment modules are available for this application.
System Variables
- HPC_EXPANSIONHUNTER_DIR - installation directory