RNA sequencing role and application in clinical diagnostic

作     者：Fatemeh Peymani Aiman Farzeen Holger Prokisch Fatemeh Peymani;Aiman Farzeen;Holger Prokisch

作者机构：School of MedicineInstitute of Human GeneticsTechnical University of MunichMunichGermany Institute of NeurogenomicsComputational Health CenterHelmholtz Centre MunichNeuherbergGermany 

出 版 物：《Pediatric Investigation》 (儿科学研究（英文）)

年 卷 期：2022年第6卷第1期

页      面：29-35页

核心收录：

学科分类：100208[医学-临床检验诊断学] 1002[医学-临床医学] 10[医学] 

基　　金：Bavarian State Ministry of Health and Care Grant/Award Number:DMB-1805-0002。 

主　　题：Aberrant expression Clinical diagnosis Gene expression outliers Genetics diagnosis RNA phenotype RNA sequencing Transcriptome 

摘      要：Although whole-exome sequencing and whole-genome sequencing has tremendously improved our understanding of the genetic etiology of human disorders,about half of the patients still do not receive a molecular diagnosis.The high fraction of variants with uncertain significance and the challenges of interpretation of noncoding variants have urged scientists to implement RNA sequencing(RNA-seq)in the diagnostic approach as a high throughput assay to complement genomic data with functional evidence.RNA-seq data can be used to identify aberrantly spliced genes,detect allele-specific expression,and identify gene expression outliers.Amongst eight studies utilizing RNA-seq,a mean diagnostic uplift of 15%has been reported.Here,we provide an overview of how RNA-seq has been implemented to aid in identifying the causal variants of Mendelian disorders.