Clarifications on Platform Usage

To ensure smooth collaboration with research institutes, we have summarized the key framework conditions for using our genome analysis platform. These notes supplement the general terms and conditions and answer common questions from practice.

Frequently Asked Questions about Genome Analysis

Answers on data processing, sequencing, and integration into your research environment.

What data types can the platform process?

We support common formats from the next-generation sequencing pipeline: FASTQ raw data, BAM/CRAM alignments, and VCF variants. Methylation data and RNA-Seq expression profiles can also be imported. The platform automatically normalizes inputs, allowing you to directly compare datasets from different sequencing devices.

How does variant classification work?

Our AI models evaluate each variant based on frequency data, conservation patterns, and functional annotations. The result is a classification according to ACMG criteria with a traceable rationale. You can always see which features contributed to the classification and manually adjust the assessment.

Can I upload my own reference genomes?

Yes, you can store both public reference genomes and your own assemblies. The platform indexes your reference upon upload and uses it for all subsequent analyses. This is particularly useful when working with non-human organisms or specialized cell lines.

How are sensitive patient data protected?

All data is encrypted during transmission and storage. You work in an isolated project environment with granular access rights that you define per team member. Pseudonymization is enabled by default, and you can specify how long datasets are retained.

Can the platform be integrated into existing pipelines?

Through our REST API, you can connect the platform to your existing workflow tools such as Snakemake or Nextflow. We provide client libraries for Python and R. This preserves your existing infrastructure while using our analysis functions as additional modules.

What support options are available for research institutes?

For institutes, we offer a technical contact who assists with setting up and optimizing your analysis workflows. This includes training for your team and regular updates on new algorithms. We also provide direct support for data migration or integration with your LIMS.

Ask our team

From raw data set to validated variant

Our analysis pipeline is tailored to research institutes: every step is documented, reproducible, and ends with a verifiable result.

01

Sample and data acquisition

You submit sequencing data (FASTQ, BAM, or VCF) via an encrypted interface. We check completeness, read depth, and quality of the raw data before the analysis begins.

02

Quality control and preprocessing

Adapters are removed, low-quality bases are filtered, and reads are aligned to a reference genome. An automated report shows you metrics such as coverage and mapping rate.

03

Variant calling and annotation

Our pipeline detects SNPs, indels, and structural variants. Each variant is cross-referenced with databases such as ClinVar and gnomAD and functionally annotated—including gene and transcript information.

04

AI-supported classification

Trained models assess the pathogenicity of each variant based on sequence context, conservation, and known disease patterns. The result is a prioritization according to clinical relevance.

05

Manual validation by experts

Our bioinformaticians review conspicuous variants in the Integrative Genomics Viewer, check coverage at the position, and compare the interpretation with current literature.

06

Results report and export

You receive a structured report with all validated variants, classifications, and recommendations. The export is available as VCF, Excel, or PDF—ready for your publication or clinical documentation.

Analysis Modules for Precision Genomics

Our platform bundles bioinformatics tools for processing molecular sequences – from raw data quality control to clinical variant interpretation.

View all analysis modules
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