Available Services

Whole Genome Sequencing (WGS) is a comprehensive and high-throughput technique that enables the complete DNA sequence of an organism’s entire genome. WGS is a powerful tool with applications in various fields, including genomics research, personalized medicine, and clinical diagnostics. It provides a comprehensive view of an organism’s genetic makeup, enabling a deeper understanding of genetic variations, evolution, and the genetic basis of diseases.

Bioinformatic analysis of WGS data can be provided as a combined service by the National Facility for Data Handling and Analysis. Please select: SID: NF62.02.01

Whole Exome Sequencing (WES) is a targeted sequencing approach that focuses on sequencing the protein-coding regions of the genome, known as the exome. The exome comprises the exons, which are the coding regions of genes, and represents only a small fraction (about 1-2%) of the entire genome. Despite this, the exome contains most known disease-causing mutations, making WES a cost-effective alternative to Whole Genome Sequencing (WGS) for many applications. WES is widely used in both clinical and research settings. In clinical genetics, it is employed for diagnosing genetic disorders, identifying causative mutations, and understanding the genetic basis of rare diseases. In research, WES is valuable for studying the genetics of complex traits and diseases.

Methylation sequencing (Methyl-seq) is a technique used to study DNA methylation, a key epigenetic modification where methyl groups are added to DNA molecules, typically at cytosine bases in CpG sites. This method allows researchers to identify and quantify methylation patterns across the genome, providing insights into gene regulation, cellular differentiation, development, and disease processes such as cancer, where abnormal methylation often occurs.

Microbiome analysis using 16S and ITS amplicon sequencing is a widely used technique to study the composition and diversity of microbial communities, particularly bacteria and fungi. The 16S ribosomal RNA (rRNA) gene is a molecular marker found in the genomes of bacteria and archaea, and its variable regions are commonly used for taxonomic classification, while ITS is used to profile fungal communities. Microbiome analysis using 16S and ITS amplicon sequencing is valuable in a range of fields, including environmental science, human health, agriculture, and more. It provides a cost-effective way to characterize microbial communities and understand their roles in various ecosystems or host-associated environments.