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.