Comprehensive genome annotation is essential to understand the impact of clinically
relevant variants. However, the absence of a standard for clinical reporting and browser …

Background Variant annotation is a crucial step in the analysis of genome sequencing data.
Functional annotation results can have a strong influence on the ultimate conclusions of …

The major goal of sequencing humans and many other species is to understand the link
between genomic variation, phenotype and disease. There are numerous valuable and well …

Background Clinical genomic testing is dependent on the robust identification and reporting
of variant-level information in relation to disease. With the shift to high-throughput …

Abstract Background The MedSeq Project is a randomized clinical trial developing
approaches to assess the impact of integrating genome sequencing into clinical medicine …

Identifying functionally relevant variants against the background of ubiquitous genetic
variation is a major challenge in human genetics. For variants in protein-coding regions, our …

The accurate identification and description of the genes in the human and mouse genomes
is a fundamental requirement for high quality analysis of data informing both genome …

ORegAnno is an open-source, open-access database and literature curation system for
community-based annotation of experimentally identified DNA regulatory regions …

Abstract The Ensembl project (https://www. ensembl. org) makes key genomic data sets
available to the entire scientific community without restrictions. Ensembl seeks to be a …

Abstract Ensembl Genomes (http://www. ensemblgenomes. org) is an integrating resource
for genome-scale data from non-vertebrate species, complementing the resources for …