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

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참고문헌 (9)

  1. Nelson A, "GeneReviews®" (2008), University of Washington
  2. Furutani E, "Hematologic complications with age in Shwachman-Diamond syndrome", Blood Adv, 6, pp.297~306 (2022)
  3. "The portal for rare diseases and orphan drugs" (2014)[URL]
  4. Warren AJ, "Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome", Adv Biol Regul, 67, pp.109~127 (2018)
  5. Lawal OS, "Liver and cardiac involvement in Shwachman-Diamond syndrome : a literature review", Cureus, 12, pp.e6676~ (2020)
  6. Yamada M, "Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome : mismapping due to the pseudogene SBDSP1", Am J Med Genet A, 182, pp.1631~1636 (2020)
  7. Wu D, "Improved detection of SBDS gene mutation by a new method of next-generation sequencing analysis based on the Chinese mutation spectrum", PLoS One, 17, pp.e0269029~ (2022)
  8. Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
  9. Peng X, "Overcoming the pitfalls of next-generation sequencing-based molecular diagnosis of Shwachman-Diamond syndrome", J Mol Diagn, 24, pp.1240~1253 (2022)

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