학술논문
The importance of functional validation after next‐generation sequencing: evaluation of a novel CARD11 variant.
Document Type
Article
Author
Source
Subject
*NUCLEOTIDE sequencing
*MENDEL'S law
*POLYMERASE chain reaction
*IMMUNODEFICIENCY
*GENETICS
*THERAPEUTICS
*DISEASE risk factors
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Language
ISSN
0905-6157
Abstract
The article discusses the approaches in the advent of next-generation sequencing (NGS) techniques. It highlights the significance of whole exome sequencing (WES) for the treatment of rare Mendelian diseases. Also emphasized is the effect of inborn errors of immunity, the combined immunodeficiency disorders (CIDs) in dysfunctional lymphocyte.