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. 2014 Apr 16;1:4. doi: 10.1186/2052-6687-1-4

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© Downs et al.; licensee BioMed Central Ltd. 2014

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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IGV display of the 1-bp deletion in TTC8 (c.669delA). Each of the three samples (PRA-affected, obligate carrier and control) viewed in IGV are represented by two panels. The upper panel is a histogram where the height of each column is representative of the read depth at that location. The lower panel is a graphical view of some of the reads that align to that location. The “A” base indicated is absent in almost all reads in the PRA-affected sample, approximately half the reads in the obligate carrier and sample and none of the reads in the PRA-unaffected (control) sample.