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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)
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- Lawal OS, "Liver and cardiac involvement in Shwachman-Diamond syndrome : a literature review", Cureus, 12, pp.e6676~ (2020)
- 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)
- 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)
- 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)
- Peng X, "Overcoming the pitfalls of next-generation sequencing-based molecular diagnosis of Shwachman-Diamond syndrome", J Mol Diagn, 24, pp.1240~1253 (2022)
관련 논문AI추천
A Case of Next-generation Sequencing Gene Testing: Points to be Considered in Testing and Reporting김종원, Kim Na-Kyoung대한진단검사의학회 · Annals of Laboratory Medicine2022 · 제42권 제2호[Erratum]Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders기창석, 김영은, 장미애대한진단검사의학회 · Annals of Laboratory Medicine2019 · 제39권 제6호Commentary on "Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience"Jin Hye Young대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2024 · 제29권 제1호Whole-genome Sequencing Reveals a Novel Structural Variant of CCDC39 in a Term Neonate with Primary Ciliary Dyskinesia김현호, Kim Jin Kyu, Lee Sae-Mi, Shin Jun Hee대한진단검사의학회 · Annals of Laboratory Medicine2022 · 제42권 제4호Tuberous Sclerosis Complex Caused by TSC2 Inversion and Deletions Identified Using Whole-genome Sequencing: A Case StudyEun Baik-Lin, Kwon Jung Ah, Yoon DongJu, Yoon Jung, Yoon Soo-Young대한진단검사의학회 · Annals of Laboratory Medicine2025 · 제45권 제4호Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders기창석, 김영은, 장미애대한진단검사의학회 · Annals of Laboratory Medicine2019 · 제39권 제5호
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