MGZ provides a comprehensive portfolio of state-of-the-art next-generation sequencing (NGS) technologies for research, pharmaceutical and industrial projects. Our NGS services include quality control of the input material, library preparation, sequencing, and primary bioinformatics data processing.

Depending on the project requirements, both short-read and long-read sequencing technologies are available. In addition to comprehensive whole-genome and whole-exome sequencing, we offer targeted sequencing, gene panel sequencing, and sequencing of specific genes or defined genomic regions. Targeted analysis of mitochondrial DNA is also available.

Whole-genome sequencing (WGS) enables the analysis of the entire genome and is particularly well suited for complex variant analysis, rare disease research, oncology projects, population studies, and exploratory research.

MGZ offers both short-read whole-genome sequencing and high-resolution long-read genome sequencing. This enables the detection of both small sequence variants and larger structural genomic alterations.

Whole-exome sequencing (WES) is a well-established approach for analysing all protein-coding regions of the genome. It is particularly suitable for large-scale research projects, cohort studies, translational research, and the investigation of disease-associated variants in coding regions.

All analyses are performed using standardized workflows, with sequence data provided in a structured format for downstream analysis.

In addition to broad sequencing approaches, MGZ offers targeted analysis of specific genes, genomic regions, and custom gene panels. Depending on the project objectives, this includes the analysis of individual genes, defined genomic regions, disease-specific gene panels, and other focused sequencing approaches.

These methods are particularly suitable for well-defined research questions, validation studies, and focused research projects. Analysis strategies, target regions, and data evaluation can be tailored to the specific requirements of each project.

Long-read sequencing is particularly valuable for analysing complex genomic regions, structural variants, repetitive sequences, and haplotype structures. It is especially useful in applications where conventional short-read sequencing reaches its methodological limitations.

MGZ offers long-read sequencing workflows based on both PacBio HiFi and Oxford Nanopore technologies. These workflows can be combined with project-specific bioinformatics analysis strategies as required.

RNA sequencing (RNA-Seq) enables the analysis of gene expression, transcript variants, and regulatory mechanisms. It is particularly relevant for functional studies, oncology research, biomarker discovery, and translational research.

Our RNA sequencing services include whole-transcriptome analysis, differential gene expression analysis, fusion gene detection, and splice variant analysis. Depending on the project, transcriptome-based analyses can also support biomarker development, gene expression profiling, and clinically oriented research.

Fluorescence in situ hybridization (FISH) is an established method for analysing structural chromosomal abnormalities and defined genomic regions. It is particularly suitable for applications in haematology and oncology, as well as for projects focusing on clearly defined genomic targets.

Conventional chromosome analysis (karyotyping) enables the detection of numerical and structural chromosomal abnormalities at the cellular level. It remains an important component of cytogenetic investigations, particularly in studies involving cell lines, experimental models, and research projects with a cytogenetic focus.

Optical Genome Mapping (OGM) enables high-resolution, genome-wide detection of structural variants. The technology is particularly well suited for analysing complex genomic rearrangements, large deletions, insertions, translocations, and other structural alterations.

Mitochondrial DNA (mtDNA) sequencing enables targeted analysis of the mitochondrial genome and clinically relevant variants. It is particularly valuable for research into genetic and metabolic disorders, oncology projects, and population genetics studies.

The analysis of cell-free DNA (cfDNA) from plasma supports a wide range of research and translational applications. These include the detection of tumour-associated variants, fragmentomics approaches, and non-invasive prenatal testing (NIPT).

Epigenetic analyses enable the investigation of DNA methylation-based biomarkers and characteristic epigenetic profiles. This includes epigenetic age analysis, in which biological ageing processes are assessed using specific DNA methylation patterns. Within the field of preventive genetics, MGZ already offers these methods as part of its service portfolio.

Polygenic Risk Scores (PRS) enable the calculation of genetic risk models based on large reference datasets and the combined effects of multiple genetic variants. MGZ already offers PRS for various clinical indications within its preventive genetics portfolio. In the context of genetic contract testing, these approaches are particularly relevant for research and development projects focusing on disease prevention, risk stratification, and biomarker development.

For institutions that perform their own library preparation, MGZ offers Ready-to-Load sequencing services. In this workflow, MGZ is responsible for quality control, sequencing, and the structured delivery of sequencing data.

Microarray-based technologies enable the analysis of genetic variants and copy number variations (CNVs) across large sample cohorts. They are particularly suitable for cohort studies, population genetics research, and selected applications in basic research.