LOVD (Leiden Open Variant Database) is by far the largest locus-specific database software in the world, with all registered instances storing over 2 mln unique variants (over 20 mln variants in total) from over 300,000 individuals. The developers of LOVD from the LUMC (Leiden University Medical Center, Leiden, the Netherlands) also created LOVD+, a clinical data analysis and interpretation software, for which The Hyve provides professional services (including technical support).
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When you work at a diagnostic lab and have to analyze sequencing data, filter variants and find clinically relevant and potentially causative ones, you are familiar with this workflow. Here is how LOVD+ fits in it and helps you analyze and interpret variants:
- A patient comes to a geneticist, and the geneticist does not know the cause of the disease. He sends patient’s DNA sample for sequencing.
- Patient’s DNA is sequenced and pre-analyzed (alignment, variant calling, annotation using tools like Variant Effect Predictor are performed).
- Sequenced DNA is analyzed, and potentially causative variants are selected/filtered using LOVD+. You can use a pre-built analysis workflow (e.g., to find de novo variants), change certain filters in this workflow, or create your own analysis workflow. Variants of interest can be marked in various ways and exported to your LIMS system, if needed.
- Selected variant(s) are validated in the lab by, e.g., Sanger sequencing.
- Validated potentially causative variants are reported back to the hospital’s geneticist.
Some features of LOVD+
|Customize and adjust the way your variants are displayed||Fully configurable gene panels which can be linked to patient disease||Whole exome sequencing data analysis in seconds|
|Get a complete overview by linking your variants to external databases like LOVD||Submit selected variants for automated validation by PCR and Sanger sequencing||Automatically add experimental validation reports to your patient view|
Did you know that…
- LOVD+ is used in Leiden University Medical Centre as a part of the approved and ISO-certified protocol for using NGS analysis in diagnostics.
- LOVD+ has a fastly growing user base: right now over 10 institutions in Australia use LOVD+, as well as institutions in various European countries.
The story behind LOVD+:
LOVD+ was developed by the team of Johan den Dunnen from the LUMC (The Netherlands) with Ivo Fokkema being the main developer. At the moment Melbourne Genomics Health Alliance (Parkville, Victoria, Australia) and several more institutions from Melbourne contribute to the development of LOVD+, Ivo leads the development within the LUMC. We joined the LOVD+ team in 2016 and provide professional IT services, technical support and hosting of LOVD+ for the customers.