Publications

Whole-genome sequencing of rare disease patients in a national healthcare system

Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies

Genome annotation for clinical genomic diagnostics: strengths and weaknesses

Bridging the gap: the need for genomic and clinical -omics data integration and standardization in overcoming the bottleneck of variant interpretation

Sapientia: accelerating rare disease diagnosis and treatment

Medical and Health Genomics – Diagnostic Genomics and Clinical Bioinformatics