RNA Sequencing Solution for Inherited Disease

High-throughput sequencing technology has been increasingly used in molecular diagnosis of clinical diseases. At present, genome sequence analysis using WES/WGS and other methods can detect 25% - 50% single gene genetic diseases. However, due to the difficulty in identifying some rare regulatory genes and their downstream target genes, analysis of DNA sequencing data cannot explain the rare diseases caused by mutations in non-coding regions. Integrating genomic and transcriptomic data allows better detection of rare inherited diseases.

Accelerate Research and Practice in Inherited Disease

Transcriptomics can study gene function and gene structure from an overall level, and reveal specific biological processes and molecular mechanisms in the process of disease occurrence. Transcriptome sequencing (RNA-Seq) refers to the use of high-throughput sequencing technology for the profiling of almost all transcripts of specific tissues or cells in a certain state by comprehensive and rapid cDNA sequencing. Transcriptome study is the basis and starting point of gene function and structure study. Monitoring changes in gene expression can be used to diagnose and characterize inherited diseases especially rare ones.

During the occurrence and development of genetic diseases, the gene expression pattern in cells will change significantly. CD Genomics will obtain relevant information of transcriptome through the transcript information of cells or tissues to promote the study of genetic diseases. Based on our high-throughput sequencing platforms, we provide RNA-Seq for inherited diseases. Our complete transcriptome sequencing workflow covers RNA enrichment, fragmentation, reverse transcription, library preparation, etc. Our one-stop service can help you purify high-quality nucleic acids from a variety of research sample types, and use illumina next-generation sequencing, 10x Genomics single-cell sequencing, PacBio sequencing, and Nanopore direct RNA sequencing to provide accurate sequencing results.

Our RNA-Seq-based inherited disease research solutions cover but are not limited to: cystic fibrosis, autism spectrum disorders, epilepsy, inherited hearing loss, multiple epiphyseal dysplasia, maturity-onset diabetes of the young (MODY).

Our advantages
An abundance of sample handling experience
Enrichment and extraction of low-abundance transcripts
Covering both coding and non-coding RNAs
Multiple sequencing platforms to choose from
High accuracy of sequencing results
Comprehensive bioinformatics analysis and customized analysis

The issues that can be addressed with our RNA sequencing services
Differential inherited disease gene expression analysis
Inherited disease biomarker discovery and identification
Drug research and development
Drug resistance research

Note: Our services are for research use only, not for disease diagnosis and treatment.

What can we do?

Sample types: blood, cells, tissues, or total RNA samples
Service Workflow: identification, quantitation, differential expression analysis, and other bioinformatics analyses

Service Workflow

Service Workflow

Main Sequencing Targets

  1. mRNA sequencing: Sequencing all the mRNAs transcribed at a given time in a given tissue or cell allows the study of known disease-related genes as well as the discovery of new ones.
  2. lncRNA sequencing: lncRNA regulates gene expression at epigenetic, transcriptional, and post-transcriptional levels by binding to DNA, RNA or protein. lncRNA sequencing mainly analyzes and studies all lncRNA and mRNA transcribed by cells or tissues in a specific period.
  3. circRNA sequencing: The unique ring structure of circRNA enables it to escape the degradation of RNAse and has strong intracellular stability, which is of great significance in the study of the pathogenesis and treatment of diseases.
  4. miRNA sequencing: miRNAs control the expression of genes by guiding the RNA-induced silencing complex (RISC) to complementary sites in the 3' UTRs of the target mRNAs. This regulatory mechanism underlying gene expression is involved in almost all processes of cell biology and development.

Sequencing Platforms

Illumina NextSeq / HiSeq / NovaSeq 10x Genomics Single-Cell Sequencing PacBio RS Il / Sequel Nanopore
Inherited disease gene discovery
Inherited disease gene expression
Splice variation
Single-cell inherited disease gene discovery
Single-cell inherited disease gene expression
Single-cell genetic structure
Inherited disease gene expression
Transcript structures
Inherited disease gene discovery
Splicing / alternative splicing
Transcription initiation
RNA cleavage / adenylation
Inherited disease gene expression
Transcript structures
Inherited disease gene discovery
Splicing / alternative splicing
Transcription initiation
RNA cleavage / adenylation
RNA modification

Bioinformatics Analysis Contents

QC and Visualization Filtering, trimming, optional error correction if possible, and visualization
Transcriptome Assembly Mapping to known transcriptomes; de novo assembly and annotation to protein database; outcome evaluation; Transcript and isoform quantification
miRNA Profiling
  1. Target gene prediction and network analysis
  2. Novel miRNA prediction
  3. Correlation analysis between miRNA and mRNA (mRNA data required)
circRNA Profiling
  1. circRNA binding site prediction
  2. circRNA and mRNA co-expression analysis
  3. Enrichment analysis of circRNA
lncRNA Profiling
  1. lncRNA target gene analysis
  2. cis/trans action analysis
  3. Analysis of lncRNA and mRNA co-expression
Functional Profiling GO, DAVID, KEGG, TrEMBL, Pfam, InterPro, SignalP, Blast2GO; Molecular functions or pathways in which differentially expressed genes
Advanced Analysis In-depth and advanced analyses: canonical pathways, mechanistic hypotheses, potential therapeutics, biomarkers, disease mechanisms

Comprehensive Solutions to Accelerate Your Microbiota Research

CD Genomics has a professional technical team and bio-analysis team, and has more than ten years of project experience in the sequencing field. We have a mature technical route, provide accurate and reliable data and deliver results that meet your requirements. We are committed to providing efficient, cost-effective, and high-quality sequencing services to help your research of inherited diseases.

* For Research Use Only. Not for use in diagnostic procedures.

Research Areas
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