Regroups a set of terms and relationships used to describe the features and attributes of biological sequence. SO includes different kinds of features which can be located on the sequence. It maintains and updates the specification and provides the underlying ontological structure. The terminology was used to annotate the human reference genome with a set of variants from both COSMIC and dbSNP.
Supported by the National Human Genome Research Institute [R01HG004341] and National Library of Medicine training grant [T15 LM007124-18, NRS]. Ensembl receives majority funding from the Wellcome Trust (grant numbers WT095908 and WT098051) with additional funding for specific project components from the National Human Genome Research Institute (U41HG007234, 1R01HD074078, and U41HG007823), the Biotechnology and Biological Sciences Research Council (BB/K009524/1, BB/L024225/1, BB/M018458/1 and BB/M020398/1), the Centre for Therapeutic Target Validation (CTTV) and the European Molecular Biology Laboratory. The research leading to these results has received funding from the European Union's Seventh Framework Programme (FP7/2007-2013) under grant agreement n°282510 (BLUEPRINT).