The identification of genes that are expressed differentially in the diseased versus healthy individual give relevant information regarding the pathology of the disease. The identification of DEGs can be a significant step in the field of clinical and pharmaceutical research. They can act as a potent biomarker, therapeutic target, or gene signature for the early diagnosis of the disease. Intellectual disability is a neurodevelopmental disorder that affects at the fetal stage. Timely diagnosis of the disease can help in preventing severe neurodevelopmental delay in the child. In the current study, meta-analysis approach was applied for the identification of the DEGs in patients of intellectual disability disorder. 6 intellectual disability datasets were retrieved from the GEO database of NCBI and were subjected to quality check, trimming, and alignment. Post-alignment, featureCounts was used to form a raw gene count file for differential analysis. The differentially expression genes were analyzed using the EdgeR statistical package of R Studio. The genes which had an FDR p-value less than 0.05 and log2foldchange greater than 0 were considered as the upregulated and significantly expressed genes. The study found MTRNR2L1, PAPSS2, L1CAM, IGLV1-47, IGLV3-19, and IGKV1-16 genes to be upregulated in the patient sample. These genes can thus play an important role in the progression of intellectual disability disorder that facilitates early diagnosis of the disease.
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Meta-analysis of RNA-Seq data identifies potent biomarker for Intellectual Disability Disorder (IDD)
Published:
30 September 2022
by MDPI
in The 3rd International Electronic Conference on Brain Sciences
session Computational Neuroscience and Neuroinformatics
Abstract:
Keywords: Intellectual disability, Differential gene expression analysis; EdgeR; neurodevelopmental delay; biomarker; meta-analysis
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