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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
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Korean Society for Laboratory Medicine
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10345175/ https://www.ncbi.nlm.nih.gov/pubmed/37387500 http://dx.doi.org/10.3343/alm.2023.43.6.638 |
| _version_ | 1785073027849912320 |
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| author | Lee, Heerah Lee, Jung Ae Lee, Hyesu Lee, Jee-Soo Ko, Jung Min Kim, Man Jin Seong, Moon-Woo |
| author_facet | Lee, Heerah Lee, Jung Ae Lee, Hyesu Lee, Jee-Soo Ko, Jung Min Kim, Man Jin Seong, Moon-Woo |
| author_sort | Lee, Heerah |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-10345175 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2023 |
| publisher | Korean Society for Laboratory Medicine |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-103451752023-07-15 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, Heerah Lee, Jung Ae Lee, Hyesu Lee, Jee-Soo Ko, Jung Min Kim, Man Jin Seong, Moon-Woo Ann Lab Med Letter to the Editor Korean Society for Laboratory Medicine 2023-11-01 2023-06-30 /pmc/articles/PMC10345175/ /pubmed/37387500 http://dx.doi.org/10.3343/alm.2023.43.6.638 Text en © Korean Society for Laboratory Medicine https://creativecommons.org/licenses/by-nc/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0 (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Letter to the Editor Lee, Heerah Lee, Jung Ae Lee, Hyesu Lee, Jee-Soo Ko, Jung Min Kim, Man Jin Seong, Moon-Woo Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome |
| title | Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome |
| title_full | Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome |
| title_fullStr | Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome |
| title_full_unstemmed | Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome |
| title_short | Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome |
| title_sort | variant allele frequency of pseudogene-related variants in short-read next-generation sequencing data may mislead genetic diagnosis: a case of shwachman-diamond syndrome |
| topic | Letter to the Editor |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10345175/ https://www.ncbi.nlm.nih.gov/pubmed/37387500 http://dx.doi.org/10.3343/alm.2023.43.6.638 |
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