AI · Cloud · Shared knowledge
Franklin is QIAGEN's cloud platform for the classification and interpretation of germline and somatic variants. It combines AI-assisted automated classification according to ACMG guidelines, an open community of more than 50,000 professionals from over 95 countries and, now, direct integration with the HGMD Professional database. It is independent of the sequencing platform and the workflow used. Free and paid versions are available.
Franklin was originally developed as a Genoox platform and was named after Rosalind Franklin, whose research made a fundamental contribution to understanding the structure of DNA. In May 2025, Franklin became part of QIAGEN Digital Insights. It is a cloud-based tool for clinical NGS labs, from panel analysis through WES to WGS. One of its main strengths is an open genomic community: more than 50,000 professionals from over 2,000 organisations and over 95 countries share variant classifications and insights from real cases while adhering to data protection rules. Shared knowledge significantly speeds up the interpretation of rare and novel variants and has already contributed to the reclassification of many VUS and the identification of rare causal variants.
Since May 2026, Franklin can be connected to the HGMD Professional database, which provides expert-curated data on germline mutations. Users with the appropriate HGMD licence can access its content directly within the Franklin environment without having to switch between separate tools. Franklin also supports classification according to ACMG guidelines, analysis of structural variants and copy number variants (CNVs), microarray data and long-read data from PacBio and Oxford Nanopore platforms. In addition, anonymised data can be shared between institutions with a single click.
For individual clinicians, genetic counsellors and researchers.
For labs, hospitals and research teams with advanced needs.
AI applies the ACMG criteria (PVS, PS, PM, PP, BA, BS, BP) and keeps a traceable evidence trail for the resulting classification. This can save a geneticist tens of minutes per case.
Since May 2026, you have direct access to more than 575,000 expert-curated germline mutation records, their classifications, phenotype associations and the relevant literature, right within the Franklin environment.
An open community of more than 50,000 professionals from 95+ countries shares variant classifications and case discussions, and enables experts to consult one another on variants of uncertain significance.
Support for structural variants, copy number changes, complex genomic regions, microarray data and long reads from PacBio HiFi and Oxford Nanopore, with the same accuracy as for point variants.
Secondary analysis, including quality control and annotation, leads seamlessly into tertiary analysis focused on variant interpretation and classification.
Anonymised information on detected and classified variants can be shared directly from Franklin with no extra steps. Community variant frequency data are also available, both globally and for individual populations.
Exome and genome analysis (WES, WGS) in diagnostically unresolved cases. Community knowledge and AI-supported tools help speed up the classification of variants of uncertain significance (VUS).
Panel analysis for BRCA, Lynch syndrome and other hereditary cancer predispositions. Automated classification according to ACMG guidelines and the option to use HGMD Professional data make variant interpretation more efficient.
Interpretation of somatic variants from plasma, filtering by variant allele frequency (VAF) and linking variants to targeted therapy options based on current scientific evidence.
Efficient processing of large carrier panels with automated ACMG classification and the option to use evidence from HGMD Professional.
Cohort analyses with dedicated workspaces for individual teams, shared annotations and common rules across collaborating institutions.
The option to contact experts who have already assessed the same variant, share case evidence and draw on the community's experience for faster and more accurate classification.
Franklin is a research tool for analysing human genetic data and is not intended for diagnostic purposes.
The free version is available immediately, with no installation. When you want to use Franklin to the full, whether that means the paid version, the HGMD add-on or connecting Franklin to your laboratory systems, we'll be glad to show you everything and arrange a demo, consultation and training.