Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing

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• 作者：Karin R. Engelhardt ; Yaobo Xu ; Angela Grainger…
• 关键词：IL7R ; copy number variation ; compound heterozygous ; SCID ; whole exome sequencing
• 刊名：Journal of Clinical Immunology
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：37
• 期：1
• 页码：42-50
• 全文大小：818KB
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Immunology; Infectious Diseases; Internal Medicine; Medical Microbiology;
• 出版者：Springer US
• ISSN：1573-2592
• 卷排序：37

文摘

PurposeWe aimed to achieve a retrospective molecular diagnosis by applying state-of-the-art genomic sequencing methods to past patients with T-B+NK+ severe combined immunodeficiency (SCID). We included identification of copy number variations (CNVs) by whole exome sequencing (WES) using the CNV calling method ExomeDepth to detect gene alterations for which routine Sanger sequencing analysis is not suitable, such as large heterozygous deletions.