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Publications

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

2017, Expert Review of Precision Medicine and Drug Development

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

2016, Future Medicine

Sapientia: accelerating rare disease diagnosis and treatment

2016, Medical and Health Genomics

Medical and Health Genomics – Diagnostic Genomics and Clinical Bioinformatics

2015, The Lancet

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

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