Publications

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

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data