A review of tools to automatically infer chromosomal positions from dbSNP and HGVS genetic variants

摘要: Recently there is a plethora of Locus-Specific Mutation Databases (LSMD) that contain genetic variants for many organisms and for a large range of phenotypes and diseases. Additionally, current research in genetics, discovers numerous novel variants in a daily base that have various consequences in physiology. One of the most widely used standards for variant reporting is Human Genome Variation Society (HGVS). HGVS describes a variant according to a reference sequence, a position, and a nucleotide or amino acid change. However, the lack of established quality standards for reporting genetic variants and the plethora of existing reference sequence systems have led to the incidental erroneous or ambiguous reporting of variants in LSMDs or even in published reports. These inconsistencies hinder the task of identifying the chromosomal position of a HGVS variant, which is a vital part in confirming its …