Learn

Read more about MOLGENIS in manuals, news items and publications.

Documentation

Here you can find documentation:

Here you can find all news items:

Relevant publications by MOLGENIS community members:

Holub et al (2016) BBMRI-ERIC Directory: 515 Biobanks with Over 60 Million Biological Samples. Biopreservation and Biobanking
Roxana Merino-Martinez et al (2016) Toward Global Biobank Integration by Implementation of the Minimum Information About BIobank Data Sharing (MIABIS 2.0 Core). Biopreservation and Biobanking

Pang et al (2017) BiobankUniverse: automatic matchmaking between datasets for biobank data discovery and integration. Bioinformatics
Wilkinson et al (2016) The FAIR Guiding Principles for scientific data management and stewardship. Scientific Data
Pang et al (2016) MOLGENIS/connect: a system for semi-automatic integration of heterogeneous phenotype data with applications in biobanks. Bioinformatics
Pang et al (2015) BiobankConnect: software to rapidly connect data elements for pooled analysis across biobanks using ontological and lexical indexing. Journal of the Medical Informatics Association
Pang et al (2015,)SORTA: a system for ontology-based re-coding and technical annotation of biomedical phenotype data. Database(Oxford)
Lancaster et al (2015) Cafe Variome: general-purpose software for making genotype-phenotype data discoverable in restricted or open access contexts. Human Mutation

Van der Velde et al (2018) MOLGENIS Research: Advanced bioinformatics data software for non-bioinformaticians. Bioinformatics
Li et al (2016) A Functional Genomics Approach to Understand Variation in Cytokine Production in Humans. Cell
Netea et al (2016) Understanding human immune function using the resources from the Human Functional Genomics Project. Nature Medicine
Snoek et al (2013) WormQTL–public archive and analysis web portal for natural variation data in Caenorhabditis spp. Nucleic Acids Research

Van den Akker et al (2011) The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Human Mutation
Lazarinne et al (2015) The ARVD/C genetic variants database: 2014 update. Human Mutation
Van der Velde et al (2013) An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations. Human Mutation
Janssen et al (2012) Mutation update on the CHD7 gene involved in CHARGE syndrome. Human Mutation

Van der Velde (2017) GAVIN: Gene-Aware Variant INterpretation for medical sequencing. Genome Biology
Van Gijn et al (2018) New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).Journal of Medical Genetics
Engwerda et al (2018) The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports. European Journal of Human Genetics
Sikkema-Raddatz et al (2016) NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results. Science reports

Kanterakis et al (2015) Molgenis-impute: imputation pipeline in a box. BMC Research Notes
Deelen et al (2015) Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels. Genome Medicine
Johanson et al (2016) CoNVaDING: Single Exon Variation Detection in Targeted NGS Data. Human Mutation
Deelen et al (2014) Genotype harmonizer: automatic strand alignment and format conversion for genotype data integration. BMC Research Notes