HGMD vs UCSC dbsnp

[jsun529]

Does any one evaluate the HGMD mutation database vs the UCSC dbsnp databases?

Thanks

[apratap]

Hey,

I haven't really worked with HGMD but glancing through the website it looks like there is a significant difference between the variations stored in HGMD compared to dbSNP. Especially with the v131 coming up which has SNP data from 1000genomes project.

Please excuse me if I am making a understatement about HGMD as I am not well versed with the dbase.

Just my 2 cents,
-Abhi

[Aquarius]

Yes, there is a significient difference between HGMD and dbSNP. HGMD is collecting only disease associated human mutations including other types of mutations such as micro-lesion (deletions, insertions, indels), gross deletions, gross insertions/duplications, complex rearrangements, and repeat variations. About 20% of HGMD SNPs have dbSNP links/identifiers. Most of the HGMD mutations are not represented in dbSNP.