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Infinium 450K in Rhabdomyosarcoma
Whole-exome sequencing in 16 RMS cases Whole-transcriptome sequencing in 8 RMS cases
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in childhood. To unravel the genetic/epigenetic basis of RMS, we studied 60 RMS cases using whole exome/transcriptome sequencing, copy number (CN) profiling, and DNA methylome analysis. Based on DNA methylation patterns, RMS was clustered...
We performed a DIA-MS proteomic analysis of sera from systemic juvenile idiopathic arthritis with different activity phases using a high protein depletion process. We profiled the proteins in the sera that differed significantly in their activity phase.
ORGANISM(S): Homo Sapiens (human) 
Genetic diagnosis plays a central role in the clinical management of patients with inborn errors of immunity (IEI). We proposed a novel method for diagnosing IEI using PBMC proteomics integrated with targeted RNA sequencing, providing notable insights into the pathogenesis of IEI. Data-independent a...
ORGANISM(S): Homo Sapiens (human) 
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