Detecting expansions with paired-end Illumina sequencing data
For an overview of how to use the package, see TODO.
Maintainer: [email protected]
Detecting known repeat expansions with standard protocol next generation sequencing, towards developing a single screening test for neurological repeat expansion disorders.
Rick M. Tankard, Martin B. Delatycki, Paul J. Lockhart, Melanie Bahlo.
bioRxiv 157792; June 2017. doi:
Data must first be prepared from BAM/CRAM files with the Perl module
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