Tag Archives: gDNA

Sequence Variants and the Genomic Databases: Standardizing the Nomenclature

June 22nd, 2010 | Posted in Bioinformatics

Genomic sequence variants, including single nucleotide polymorphisms, insertions, deletions, and even deleterious substitutions, are often listed with a deprecated nomenclature and incorrect nucleic acid or amino acid number making it difficult in practice to locate these mutations for either research or clinical purposes. A static reference genome assembly (for instance, the Locus Reference Genomic sequence), an up to date system of nomenclature (mutation name according to gDNA position instead of cDNA position), and more useful indexing between gDNA, cDNA and protein sequences (exon indexing) will allow for a more useful variation browser to be created.

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