Ann Lab Med.  2023 Nov;43(6):638-641. 10.3343/alm.2023.43.6.638.

Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome

• Lee H
• Lee JA
• Lee H
• Lee JS
• Ko JM
• Kim MJ
• Seong MW

• KMID: 2552045
• DOI: http://doi.org/10.3343/alm.2023.43.6.638

Figure

• 

  Fig. 1 Molecular findings in the present case. (A) Read alignments of NGS of the patient shown by the IGV software. (B) Sanger sequencing results of the patient and her parents. (C) Schema of SBDS and SBDSP1 conversion at long arm of chromosome 7. The sequence in black circles are derived from SBDS and those in white circles are from SBDSP1. Only 5 bases that are distinctive are described. The SBDS-specific primer set sequence and their approximate binding locus are indicated. Abbreviations: NGS, next-generation sequencing; IGV, Integrative Genomics Viewer.

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