The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
Turnbull C, Scott RH, Thomas E, Jones L, Murugaesu N, Pretty FB, et al. The 100 000 Genomes Project: bringing whole genome sequencing to the NHS. BMJ. 2018. 361

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, et al. Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine. NPJ Genomic Medicine. 2016. 1 : 15012.

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, et al.. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Molecular Psychiatry. 2016. 22 : 615-624.

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, et al. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genetics in Medicine. 2017. [Epub ahead of print]

Simplifying research access to genomics and health data with Library Cards
Cabili MN, Carey K, Dyke SOM, Brookes AJ, Fiume M, Jeanson F, et al. Simplifying research access to genomics and health data with Library Cards. Scientific Data. 2018. 5 : 180039.

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