Integrated Genomics and Transcriptomics Analysis

Genomics is the study of the entire genome of an organism. The entirety of an organism's genetic material, including all of its genes and non-coding DNA sections, is known as its genome. Discovering gene connections and regulatory networks is made possible by the study of genomics. The transcriptome is the collection of all mRNAs in an organism at a given point in time and organization. We can comprehend the variations and regulation patterns of gene expression in various tissues, developmental stages, or environmental situations by using transcriptomics analysis.

Integrated genome and transcriptome, one can gain a deeper knowledge of how different genes interact as well as the intricate mechanisms that control how genes are expressed. Additionally, by utilizing biodiversity, this research approach has the potential to identify novel biomarkers and therapeutic targets, enhance agricultural crop yields strategically, broaden researchers' knowledge of the life sciences, and significantly aid in the detection and treatment of disease.

Creative Proteomics is an industry leader in integrated multi-omics analysis. Our integrated genomics and transcriptomics analysis services, which synthesize the results of genetic and transcriptional sequencing data, can help researchers gain a more comprehensive understanding of biological systems.

Applications of integrated genomics and transcriptomics analysis

• Cancer research. Integrated analysis of genomics and transcriptomics data has significantly advanced cancer research. By identifying driver mutations and dysregulated genes in tumor samples, researchers can pinpoint potential therapeutic targets and develop personalized treatment strategies. Transcriptome sequencing can be used to determine the expression of a large number of genes, and comparing transcript differences between cancer tissues and control tissues can help researchers determine the disease relevance of changes in the expression levels of specific genes for determining the pathogenesis of a disease. Additionally, studying gene expression profiles in cancer patients can help predict disease prognosis and treatment response.
• Infectious diseases. Understanding host-pathogen interactions in infectious diseases is made possible by integrated genomes and transcriptomics studies. Researchers can create novel treatments and vaccines to better successfully fight infectious agents by looking at how pathogens alter host gene expression and how genetic variations in hosts affect susceptibility to infections.
• Pharmacogenomics. Utilizing integrated data, pharmacogenomics allows doctors to customize drug regimens for each patient according to their genetic make-up and gene expression patterns. Clinicians can forecast potential adverse responses and enhance therapeutic efficacy by identifying genetic differences that affect drug response. This results in more individualized and precise medical treatment.

Our service workflow

Advantages of our services

• Advanced technology platform. We have an advanced sequencing platform that can comprehensively and accurately analyze the interrelationships between genomes and transcriptomes.
• Correlation analysis. Integrate genomic and transcriptomic data for revealing comprehensive gene regulatory networks.
• Project Experience. We have proven research portfolio solutions and we are an industry leader in integrated multi-omics analysis.

What do we offer?

Creative Proteomics will provide you with the following detailed technical reports.

• Experimental steps.
• Relevant experimental parameters.
• Experimental images.
• Raw data.
• Genomic and transcriptomic analysis results.

Creative Proteomics has extensive experience in integrated multi-omics analysis. The integrated genomic and transcriptomic analysis services we provide have helped complete several research projects so far, which have greatly promoted the progress of life science research and played an important role in interpreting comprehensive gene regulatory networks, discovering new biomarkers, and developing new therapeutic drugs. If you are interested in us, please feel free to contact us.

DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis

Journal: Nat Immunol

Published: 2016

Abstract

Abnormal nucleic acids produced during viral replication are a major trigger for antiviral immunity, and mutations that disrupt nucleic acid metabolism can lead to autoinflammatory diseases. In this article, the authors investigated the etiology of X-linked reticulate pigmentary disorder (XLPDR) in the context of combined genomic and transcriptomic analyses. It was found that XLPDR is caused by an intronic mutation that disrupts the expression of POLA1, which encodes the catalytic subunit of DNA polymerase-alpha. At the same time, POLA1 deficiency leads to increased production of type I interferon. This enzyme is required for the synthesis of RNA:DNA primers during DNA replication, and the authors also found that POLA1 is also required for cytoplasmic RNA:DNA synthesis, which directly regulates interferon activation. Together, this work identifies POLA1 as a key regulator of the type I interferon response.

Results

XLPDR is due to an intronic mutation that disrupts POLA1 expression. In the present investigators, the authors used genome sequencing to analyze the genomic sequencing of four patient samples from 12 XLPDR families and found that these four patient samples had a mutation from A in the POLA1 intronic region rs24744696 to G. This gene encodes the DNA polymerase alpha catalytic subunit, which is involved in RNA:DNA heterodimerization. The mutation was co-isolated with XLPDR disease. Using cellular function tests, the authors found that the adenine to guanine mutation in the miscut POLA1 is indeed strongly associated with XLPDR.

Using transcriptome sequencing, the authors compared the transcriptomes of four normal and two diseased somatic cell lines and found that many genes encoding type I interferon regulatory factors, signaling pathways, and NF-κB were upregulated in the somatic cells of the patients. qRT-PCR was further performed on blood samples from five patients and 14 normal individuals, and it was found that 10-fold higher expression of interferon regulatory factor- and NF-κB-dependent genes was found in the patients compared with that in the normal individuals. The results of the study indicated that the POLA1 mutation activated the interferon regulatory factor- and NF-κB-dependent genes and, consequently, activated the mechanism of type I interferon response.

Conclusion

The authors integrated the results of genetics and transcriptomics data and analyzed and found that mutations in the POLA1 intron affect POLA1 gene expression. XLPDR is due to a unique aberrant mutation in POLA1, which encodes the catalytic subunit of DNA polymerase-alpha and promotes the production of type I interferon. Together, the POLA1 protein and type I interferon affect the synthesis of RNA:DNA heterodimers that which leads to the XLPDR disease phenotype.

Reference

1. Starokadomskyy P,Gemelli T,Rios JJ, et al. DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis. Nat Immunol. 2016;17 (5):495-504.