Research & Pharm Solutions

Genome sequencing

Whole Genome Sequencing (WGS), powered by next-generation sequencing (NGS) technology, provides sequence information that spans the complete genome, which is comprised of approximately 3.2 billion base pairs. In contrast to Whole Exome Sequencing, WGS provides sequence information spanning coding, non-coding, and intergenic regions as well as mitochondrial DNA sequences. By comparing an individual's genome to a reference genome, it’s possible to detect single nucleotide variants (SNVs), small insertions and deletions (indels), copy number variations (CNVs), and structural variants (SVs).

WGS contributes to :</span >

1. Constitutional studies, personalized medicine, and translational research
2. Discovery of biomarkers and pharmacogenetic insights
3. Disease research
4. Microorganism examination

Various WGS solutions are available to provide the comprehensive genome analysis you need for your research.

Exome sequencing

The exome, comprising about 30 million base pairs and representing 22,000 genes, makes up roughly 2% of the genome. It is estimated that approximately 85% of disease-causing variants can be found within these protein-coding regions. WES therefore allows for a focused and cost-effective approach to identifying variants of interest within a more condensed and manageable data set. This means that a smaller, more targeted data set has the potential to provide you with the answers you need in a faster and more efficient way. We can provide whole exome data at a variety of coverage levels to meet the needs of your project. While WES can identify a wide variety of clinical genetic variants that affect protein function, it will not be able to identify structural or non-coding variants outside of the coding regions that may also be associated with disease or phenotypes of interest. To identify these variants, a whole genome sequencing approach will be more suited to your needs.

Panel sequencing

A gene panel comprises a defined selection of genes that are enriched and sequenced. With this method, it is possible to sequence many samples simultaneously with a high sequencing depth using next-generation sequencing. Panel sequencing results in a manageable amount of data with a low proportion of underrepresented regions.

Small RNA sequencing

Small RNA sequencing focuses on short RNA molecules. These short RNA molecules play an important role in silencing and processes of post-transcriptional gene expression regulation. Sequencing of small RNAs allows the analysis of these molecules in more detail and, therefore, permits.

1. Profiling of all small RNAs and miRNAs in the transcriptome
2. Identification of novel small RNAs,
3. Tissue-specific differential expression analysis of small RNAs, and
4. Identification of novel biomarkers for cancer and other diseases.

Transcriptome sequencing

Connect the genome to the gene function

The transcriptome comprises all RNAs present in a specific cell or tissue type at a distinct time. Their presence and abundance correspond to the current metabolic state of the cells and are affected by external and internal changes. Transcriptome sequencing is a powerful method to detect and quantify RNA molecules.

Application areas and objectives for transcriptome sequencing are diverse and include

Microbiome sequencing

Shotgun Metagenomic Sequencing

Recent research suggests a close relationship between the composition of the human microbiome and the occurrence of a variety of diseases, including the response towards pharmaceutical drugs. According to recent findings, this relationship has been particularly shown for the gut microbiome, but it can also be extended to other body sites, such as the skin, mouth, or nose. Furthermore, microorganisms are involved in many biochemical reactions in the environment and represent important constituents of environmental ecosystems. Understanding microbial functions in specific microbiomes or host-microbe relationships, offers great potential for new therapeutic discoveries, especially for microbes, which are difficult to cultivate.

Shotgun metagenomic sequencing analyzes the complete DNA content of a sample and allows accurate detection of microbes (bacteria, archaea, fungi, protozoa, viruses, etc.) down to species level. Accordingly, functional genes encoding specific metabolic enzymes can be analyzed. Shotgun metagenomic sequencing is the best choice when microbiomes need to be thoroughly characterized, including accurate identification of microbial species and their functional repertoire.

Applications of shotgun metagenomic sequencing are diverse and include</span >

• Disease monitoring
• Microbial biomarker detection
• Drug development
• Characterization of environmental microbiomes
• Discovery of new microbial species (de novo</span > assembly)

The 16S ribosomal RNA (rRNA) gene is approximately 1.5 kb long and contains several conserved and hypervariable regions (V1-V9) that vary between different bacteria. These hypervariable sequences can be used to identify and characterize microbial diversity. Therefore, the 16S rRNA gene is a common marker to characterize microbial communities in various specimens.

• Characterization of different microbial communities
• Microbial biomarker detection
• Disease monitoring
• Drug development