exSTRa | R Documentation |
Detecting expansions with paired-end Illumina sequencing data
Package: | exSTRa |
Type: | Package |
Version: | 0.8 |
Date: | 2017-09-04 |
License: | GPL-2 |
For an overview of how to use the package, see TODO.
Maintainer: tankard@wehi.edu.au
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: https://doi.org/10.1101/157792
Data must first be prepared from BAM/CRAM files with the Perl module
<Bio::STR::exSTR>
.
exstra_wgs_pcr_2["HD"] plot(exstra_wgs_pcr_2["HD"])
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