Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome.
Annals of laboratory medicine（2023）
摘要
Heerah Lee, M.D., Jung Ae Lee, M.T., M.S., Hyesu Lee, B.S., Jee-Soo Lee, M.D., Ph.D., Jung Min Ko, M.D., Ph.D., Man Jin Kim, M.D., Ph.D., and Moon-Woo Seong, M.D., Ph.D.. Ann Lab Med 2023;43:638-41. https://doi.org/10.3343/alm.2023.43.6.638
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关键词
genetic,diagnosis,syndrome,pseudogene-related,short-read,next-generation,shwachman-diamond
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