Related references
Note: Only part of the references are listed.SPDI: data model for variants and applications at NCBI
J. Bradley Holmes et al.
BIOINFORMATICS (2020)
VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions
Peter J. Freeman et al.
HUMAN MUTATION (2018)
A variant by any name: quantifying annotation discordance across tools and clinical databases
Jennifer L. Yen et al.
GENOME MEDICINE (2017)
Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation
Nuala A. O'Leary et al.
NUCLEIC ACIDS RESEARCH (2016)
HGVS Recommendations for the Description of Sequence Variants: 2016 Update
Johan T. den Dunnen et al.
HUMAN MUTATION (2016)
An efficient algorithm for the extraction of HGVS variant descriptions from sequences
Jonathan K. Vis et al.
BIOINFORMATICS (2015)
The Moroccan Genetic Disease Database (MGDD): a database for DNA variations related to inherited disorders and disease susceptibility
Hicham Charoute et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants
Jacqueline A. L. MacArthur et al.
NUCLEIC ACIDS RESEARCH (2014)
HGV&TB: a comprehensive online resource on human genes and genetic variants associated with tuberculosis
Ruchika Sahajpal et al.
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION (2014)
The variant call format and VCFtools
Petr Danecek et al.
BIOINFORMATICS (2011)
A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form
Jeroen F. J. Laros et al.
BMC BIOINFORMATICS (2011)
LOVD v.2.0: The Next Generation in Gene Variant Databases
Ivo F. A. C. Fokkema et al.
HUMAN MUTATION (2011)
Improving sequence variant descriptions in mutation Databases and literature using the mutalyzer sequence variation nomenclature checker
Martin Wildeman et al.
HUMAN MUTATION (2008)