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The 100 000 Genomes Project: What it means for paediatrics

9 Dec 2016

Abstract excerpt

The 100 000 Genomes Project is a unique, national programme combining research and transformation of clinical care, by undertaking whole genome sequencing (WGS) in patients with rare diseases and cancer. Made possible by technological advances in next-generation sequencing1 and falling costs, this project aims to find the genes which cause a patient's rare disease and identify genetic changes which occur in the...

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PMID: 27940446
DOI: 10.1136/archdischild-2016-311029

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