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Publications

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

2018, bioRXiv

Whole-genome sequencing of rare disease patients in a national healthcare system

2017, Annual Review of Genomics and Human Genetics

Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies

2017, Genome Medicine

Genome annotation for clinical genomic diagnostics: strengths and weaknesses

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

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