Improving the Sequence Ontology terminology for genomic variant annotation
Published 2015 View Full Article
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Title
Improving the Sequence Ontology terminology for genomic variant annotation
Authors
Keywords
Genomic Feature, Variant Annotation, Sequence Alteration, Ensembl Variation, Variant Effect Predictor
Journal
Journal of Biomedical Semantics
Volume 6, Issue 1, Pages -
Publisher
Springer Nature
Online
2015-07-30
DOI
10.1186/s13326-015-0030-4
References
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Related references
Note: Only part of the references are listed.- Variation Ontology for annotation of variation effects and mechanisms
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- (2010) Daniel Rios et al. BMC BIOINFORMATICS
- Ensembl variation resources
- (2010) Yuan Chen et al. BMC GENOMICS
- A standard variation file format for human genome sequences
- (2010) Martin G Reese et al. GENOME BIOLOGY
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
- The Sanger FASTQ file format for sequences with quality scores, and the Solexa/Illumina FASTQ variants
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