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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

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