English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Plus monthly

Global: Zendy Tools annual

Global: Zendy Tools monthly

Global: Zendy Free Plan

Diagnostic exome sequencing Using next-generation sequencing technology to sequence the coding regions of all human genes, known as exome sequencing, has rapidly become one of the most successful methods for genetic disease research since its introduction in 2009 [1]. The possibility to investigate all genes for mutations in a single experiment holds great promise in the diagnostic arena, in particular for genetically heterogeneous disorders and clinically undiagnosed diseases. Laboratories, including our own, have now started to offer exome sequencing as a diagnostic test. In this article, we share our experience with diagnostic exome sequencing and discuss the impact of these novel diagnostic methods on medical practice, now and in the future.

Clinical exome sequencing in daily practice: 1,000 patients and beyond