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Article
Open AccessA joint NCBI and EMBL-EBI transcript set for clinical genomics and research
Comprehensive genome annotation is essential to understand the impact of clinically relevant variants. However, the absence of a standard for clinical reporting and browser display complicates the process of c...
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Article
Whole-genome sequencing of patients with rare diseases in a national health system
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequen...
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Article
Open AccessA standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog
The accurate description of ancestry is essential to interpret, access, and integrate human genomics data, and to ensure that these benefit individuals from all ancestral backgrounds. However, there are no est...
