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A guide to ExpansionHunter Denovo software

ExpansionHunter Denovo (EHdn) is a suite of tools for detecting novel expansions of short tandem repeats (STRs). EHdn is intended for analysis of a collection of BAM/CRAM files containing alignments of short (100-200bp) reads.

To use ExpansionHunter Denovo you need to (1) download the latest release or build the program from source, (2) obtain a collection of BAM/CRAM files a subset of which is suspected to contain a repeat expansion.

The following sections will help you to get started.

Quick start guides:

Manual pages: