Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome-Reference-Cited by-同舟云学术

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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

Published:2023-06-30 Issue:6 Volume:43 Page:638-641
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Lee Heerah¹^ORCID,Lee Jung Ae¹^ORCID,Lee Hyesu¹^ORCID,Lee Jee-Soo¹^ORCID,Ko Jung Min²³^ORCID,Kim Man Jin²³^ORCID,Seong Moon-Woo¹⁴^ORCID

Affiliation:

1. Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea

2. Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea

3. Rare Disease Center, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea

4. Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry (medical),Clinical Biochemistry,General Medicine

Link

http://pdf.medrang.co.kr/ALM/2023/043/alm-43-6-638.pdf

Reference9 articles.

1. Nelson A and Myers K. Shwachman-Diamond Syndrome. In: Adam MP, Mirzaa GM, et al. eds. GeneReviews®. Seattle: University of Washington, Seattle, 2008.

2. Hematologic complications with age in Shwachman-Diamond syndrome

3. Orphanet. The portal for rare diseases and orphan drugs. https://www.orpha.net/ (Updated on June 2014).

4. Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome

5. Liver and Cardiac Involvement in Shwachman-Diamond Syndrome: A Literature Review

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