John Paul Plazzer

Photo of John Paul PlazzerJohn Paul is the curator of the InSiGHT database, an international database for genetic variants relating to inherited GI cancer.

He is charged with encouraging database submissions and enhancing the database to ensure its continuing utility to more than 2,000 users. He is a member of the InSiGHT Variant Interpretation Committee, which is working to establish a definitive collection of genetic variant classifications. His work is funded by the Royal Melbourne Hospital Foundation.

He will be speaking on LOVD and big data management.

LOVD and Big Data Management

The field of genomics is decentralized and fragmented due to heterogeneous systems for data storage and processing. This impacts on the ability of organisations to share genomic information. Unlike in physical sciences, the life sciences have to manage patient consent and privacy issues. Furthermore, the entry level for deploying genome sequencing technology is decreasing, thus leading to further fragmentation as organisations and countries develop their own projects.

The free and open-source Leiden Open Variation Database (LOVD) offers a convenient and flexible way to store variant and phenotype data and is an important part of the genomic data landscape. LOVD can store the final output of a sequencing run, which is smaller in size than the files used to align and call the variants – making LOVD suitable for web-based sharing of genomic variants and phenotype information. LOVD is one way to store big genomic data. Ultimately, the solution to the genomic big data sharing problem is to found in Application Programming Interfaces.