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Explore our range of publications, from published scientific papers to industry articles and thought leadership.

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

Medical and Health Genomics – Diagnostic Genomics and Clinical Bioinformatics

Medical and Health Genomics, 2016

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

The Lancet, 2015

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