The InSiGHT Database: An Example LOVD System

  • John Paul Plazzer
  • Johan den Dunnen
  • Finlay Macrae


The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) operates a database with an important function in medical genetics – the sharing of clinical and genetic variant data for genes associated with inherited colorectal cancer. The Leiden Open Variation Database (LOVD) technology used for this task has been updated to handle genomic data that is increasingly being generated, often for patients or individuals with diverse clinical phenotypes. The issue of variant interpretation is a high priority, and InSiGHT’s approach is detailed here, as well as other technical challenges and possible solutions.


Variants Phenotypes Database Genomics Colorectal cancer 


Glossary of Terms


Application Programming Interface, a technology to allow systems to communicate or share data with other systems, with or without human interaction.


Colon Cancer Family Registry


Global Alliance for Genomics and Health


HUGO Gene Nomenclature Committee HUGO is the HUman Genome Organisation


Human Genome Variation Society


A record in the database that could represent a patient with a disease or an otherwise healthy person.


International Society for Gastrointestinal Hereditary Tumours


A specific database in operation. For example, InSiGHT operates its own instance of LOVD.


Leiden Open Variation Database


The previous version of LOVD software.


The latest version of LOVD software, with genomic variant storage and other advanced features.


Locus-Specific Database, also referred to as gene/disease-specific database.


Leiden University Medical Center


Massively Parallel Sequencing, also known as NGS.


Next-Generation Sequencing.


Online Mendelian Inheritance in Man


Prospective Lynch Syndrome Database


Variant Interpretation Committee.


Variant of Uncertain Significance.


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • John Paul Plazzer
    • 1
  • Johan den Dunnen
    • 2
  • Finlay Macrae
    • 1
    • 3
  1. 1.Colorectal Medicine & GeneticsThe Royal Melbourne HospitalMelbourneAustralia
  2. 2.Human Genetics & Clinical GeneticsLeiden University Medical CenterLeidenthe Netherlands
  3. 3.Department of MedicineThe University of MelbourneMelbourneAustralia

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