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Much has changed in the last two years at DGVa (http://www.ebi.ac.uk/dgva) and dbVar (http://www.ncbi.nlm.nih.gov/dbvar). We are now processing direct submissions rather than only curating data from the literature and our joint study catalog includes data from over 100 studies in 11 organisms. Studies from human dominate with data from control and case(More)
A best evidence topic in cardiac surgery was written according to a structured protocol. The question addressed was whether an early invasive approach (involving early coronary angiography followed by revascularisation if suitable) is superior to a conservative approach (with revascularisation only in patients with failed medical therapy) in patients with(More)
To the Editor: When the road map for sequencing the human genome was laid out, the study of genetic variation was deemed a critical component 1 , with the mapping of SNPs initially being a priority. The availability of a high quality human reference assembly 2 facilitated the discovery and characterization of structural variation of DNA, with copy number(More)
The European Nucleotide Archive (ENA; http://www.ebi.ac.uk/ena) is Europe's primary nucleotide sequence archival resource, safeguarding open nucleotide data access, engaging in worldwide collaborative data exchange and integrating with the scientific publication process. ENA has made significant contributions to the collaborative nucleotide archival arena(More)
We have designed and developed a data integration and visualization platform that provides evidence about the association of known and potential drug targets with diseases. The platform is designed to support identification and prioritization of biological targets for follow-up. Each drug target is linked to a disease using integrated genome-wide data from(More)
OBJECTIVE Individuals with Parkinson disease are more likely to develop melanoma, and melanoma patients are reciprocally at higher risk of developing Parkinson disease. Melanoma is strongly tied to red hair/fair skin, a phenotype of loss-of-function polymorphisms in the MC1R (melanocortin 1 receptor) gene. Loss-of-function variants of MC1R have also been(More)
The aim of this study is to assess the influence of surgeon specialization on outcomes following appendicectomy in children.General surgeons and pediatric surgeons manage appendicitis in children; however, the influence of subspecialization on outcomes remains unclear.Two authors searched Medline and Embase to identify relevant studies. Eligible studies(More)
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