MOLGENIS

Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow

Mon, 13 Jul 2026 00:00:00 +0000

Read all about it in Willem T.K. Maassen et al (2025) Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow

A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunity

Mon, 13 Jul 2026 00:00:00 +0000

Read all about it in Willem T.K. Maassen et al (2025) A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunity

National Undiagnosed Hackathon at Radboudumc

Fri, 22 May 2026 00:00:00 +0000

Several of our colleagues recently took part in the first National Undiagnosed Hackathon at Radboudumc, where 140 specialists from all Dutch university medical centers joined forces to help patients with rare, undiagnosed conditions. Over the course of 48 hours, multidisciplinary teams of clinicians, researchers, bioinformaticians and data analysts worked intensively on 33 complex patient cases in the hope of finding long-awaited diagnoses.

The event highlighted the power of collaboration and innovation in rare disease diagnostics. With more than 7,000 known rare diseases worldwide, patients often face years of uncertainty before receiving a diagnosis. By combining expertise, advanced genetic analysis and fresh perspectives, the hackathon aimed to accelerate answers for patients and their families.

We are proud that our colleagues contributed to this important initiative and to the shared effort of improving care and outcomes for people living with rare diseases.

More info here

Variant Interpretation Pipeline (VIP) highlighted by Oxford Nanopore Technologies

Thu, 23 Apr 2026 00:00:00 +0000

Read all about it in De Boer et al (2025) Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders

Another successfull roll-out of MOLGENIS Armadillo DataSHIELD network from our partner IPEC, with the focus on predicting psychosis.

Thu, 17 Jul 2025 00:00:00 +0000

Read all about it in Brink et al (2025) The International Psychosis Epidemiology Consortium Virtual Databank—A Platform for Data Harmonization and Federated Analysis of Psychosis Cohorts. Schizophrenia Bulletin.

Publication of MOLGENIS Variation Interpretation Pipeline (VIP).

Mon, 23 Jun 2025 00:00:00 +0000

Read all about it in Maassen et al. (2025) MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods. NAR Genomics and Bioinformatics.

Showcasing data harmonization and federated analysis in the EUCAN-connect project

Wed, 28 May 2025 00:00:00 +0000

Read all about it in Bergeron et al (2024) Stress and anxiety during pregnancy and length of gestation: a federated study using data from five Canadian and European birth cohorts. Eur J Epidemiol.

Using MOLGENIS DataSHIELD to analyse 107,884 mother-child dyads from 7 European birth cohorts across 6 countries highlighting consistent tendency for children from disadvantaged SECs to be at greater risk of asthma.

Thu, 01 May 2025 00:00:00 +0000

Read all about it in Pinot de Moira et al (2025) Understanding Social Inequalities in Childhood Asthma: Quantifying the Mediating Role of Modifiable Early-Life Risk Factors in Seven European Birth Cohorts. Allergy Clin Immunol Pract.

VIP pipeline helped to produce first results using novel nanopore sequencing!

Tue, 25 Mar 2025 00:00:00 +0000

Read all about it in de Boer et al (2025) Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders. Int.J.Mol. Sci

How does the disclosure protection system of DataSHIELD work?

Mon, 10 Mar 2025 00:00:00 +0000

Read all about it in Avraam et al (2025) DataSHIELD: mitigating disclosure risk in a multi-site federated analysis platform. Bioinformatics Advances