Publications
Explore our range of publications, from published scientific papers to industry articles and thought leadership.
Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy
Epilepsia, 2018
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management
Nature, 2018
Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies
Annual Review of Genomics and Human Genetics, 2017
Genome annotation for clinical genomic diagnostics: strengths and weaknesses
Genome Medicine, 2017
Bridging the gap: the need for genomic and clinical -omics data integration and standardization in overcoming the bottleneck of variant interpretation
Expert Review of Precision Medicine and Drug Development, 2017
Congenica: accelerating rare disease diagnosis and treatment
Future Medicine, 2016