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. Author manuscript; available in PMC: 2018 Jan 10.
Published in final edited form as: Genet Med. 2017 Jun 22;20(1):159–163. doi: 10.1038/gim.2017.86

Figure 2. Heterozygous deletion in PRKAR1A.

Figure 2

(A) PacBio long reads identify a heterozygous 2,184 bp deletion that includes the first coding exon of PRKAR1A. Two of four reads at the locus support the deletion. (B) Sanger sequencing confirms the deletion. The forward (YH_479426-1073) and reverse (YH_479426-1074) sequences from a representative amplicon agree to the base pair with the higher quality PacBio read, PacBio_53019216. (C) Illumina short reads support the heterozygous deletion variant through a drop in read coverage and clipped reads at the deletion breakpoints.