Targeted Next Generation Sequencing Identifies Novel Mutations in <i>RP1</i> as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy

<div>Sequencing statistics in index patients. (a) The overall sequencing coverage of the target regions at 25X depth of coverage is shown in each of the chromosomes. No values were indicated for chromosomes 13, 18, 21, and 22 as they were not targeted. The term chromosome 23 was used to designate the X chromosome. F1941: III.1<b> (</b>CIC04130) and F3110: III.5 (CIC05941) showed the lowest coverage results. (b) The average mean depth per base pair is shown for each of the chromosomes. Most targets showed coverage around 300 times.</div>

BioMed Research International

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Figure 2: Targeted Next Generation Sequencing Identifies Novel Mutations in <i>RP1</i> as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy 

Figure 2 | Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy 