Characterization of inter/intra-individual and inter-tissue genetic variation in human ribosomal DNA genes

Shah, Aisha

Characterization of inter/intra-individual and inter-tissue genetic variation in human ribosomal DNA genes

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Shah, A. Characterization of inter/intra-individual and inter-tissue genetic variation in human ribosomal DNA genes. 2023. handle: http://hdl.handle.net/10230/59922

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Abstract

The ribosome is crucial for protein synthesis and genetic variants in ribosomal genes can cause various diseases. Analyzing ribosomal genes have been challenging due to their location in repetitive chromosome regions. The release of T2T-CHM13 human genome provides comprehensive reference with characterized ribosomal genes in centromeric regions. We developed a computational pipeline using this reference to accurately identify ribosomal RNA variants from matched WGS and RNAseq data.Benchmark analysis identified 120 variants within the different rDNA operons of T2T-CHM13 genome and found 71 out of the 120 to be detectable in WGS data and 17 in RNAseq data . Applying the pipeline to 48 cell lines validated its effectiveness. This study contributes to understanding rRNA gene expression variability and sets the stage for further exploration in transcriptomics research.