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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

ANNALS OF LABORATORY MEDICINE (2023)

Hematologic complications with age in Shwachman-Diamond syndrome

Elissa Furutani et al.

Summary: The study examined 153 subjects with SDS and found that absolute neutrophil counts and hemoglobin levels increase with age, while platelet counts and marrow cellularity decrease. Marrow cellularity was not correlated with blood counts. 17% of subjects developed myeloid malignancies.

BLOOD ADVANCES (2022)

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Article Multidisciplinary Sciences

Improved detection of SBDS gene mutation by a new method of next-generation sequencing analysis based on the Chinese mutation spectrum

Dong Wu et al.

Summary: This study analyzed the mutation spectrum of the SBDS gene in the Chinese population and found that mutations primarily result from sequence exchange between SBDS and its pseudogene. A novel mathematical method was proposed for identifying pathogenic variants in the SBDS gene using read-depth, improving the accuracy of SBDS gene mutation analysis in clinical samples.

PLOS ONE (2022)

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Article Pathology

Overcoming the Pitfalls of Next-Generation Sequencing-Based Molecular Diagnosis of Shwachman-Diamond Syndrome

Xiaomin Peng et al.

Summary: In this study, an efficient approach was established to infer the haplotype of SBDS, improving the diagnostic rate for the two most common variants in a Chinese SDS high-risk cohort. Compared with conventional analysis, the established workflow showed higher accuracy in overall variant detection.

JOURNAL OF MOLECULAR DIAGNOSTICS (2022)

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Article Genetics & Heredity

Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1

Mamiko Yamada et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)

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Review Medicine, General & Internal

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

Odunayo S. Lawal et al.

CUREUS JOURNAL OF MEDICAL SCIENCE (2020)

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Article Genetics & Heredity

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

Sue Richards et al.

GENETICS IN MEDICINE (2015)

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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

相关参考文献

Hematologic complications with age in Shwachman-Diamond syndrome

Improved detection of SBDS gene mutation by a new method of next-generation sequencing analysis based on the Chinese mutation spectrum

Overcoming the Pitfalls of Next-Generation Sequencing-Based Molecular Diagnosis of Shwachman-Diamond Syndrome

Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1

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

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

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