Genomic technologies and bioinformatics

Research focuses on:

1. The developing bioinformatic methods for the application of novel high-throughput genomic technologies for the identification and interpretation of genome variation, with an application to the discovery of novel genetic causes of human disease.
2. The development of novel bioinformatic approaches to interpret genomic variation based on large datasets with an application to the discovery of novel genetic causes of human disease.
3. The implementation of novel genomic technologies and bioinformatic approaches to improve genetic diagnostics for patients.