Go Back   SEQanswers > Bioinformatics > Bioinformatics

Similar Threads
Thread Thread Starter Forum Replies Last Post
Somatic Mutations in dbSNP qqcandy Bioinformatics 14 07-27-2015 02:34 PM
dbSNP frequencies JohnK Bioinformatics 2 12-05-2013 08:36 AM
Related SNPs to dbSNP lyz1030 Bioinformatics 1 06-07-2012 02:57 AM
DBSNP - Accessing through script AmitL Bioinformatics 1 11-29-2011 05:07 PM
dbSNP question boetsie Bioinformatics 0 02-15-2011 04:01 AM

Thread Tools
Old 04-26-2010, 08:47 AM   #1
Location: US

Join Date: Apr 2009
Posts: 52
Default HGMD vs UCSC dbsnp

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

jsun529 is offline   Reply With Quote
Old 04-27-2010, 08:08 AM   #2
Location: Bay Area

Join Date: Jan 2009
Posts: 58


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,
apratap is offline   Reply With Quote
Old 02-20-2013, 02:09 AM   #3
Junior Member
Location: Germany

Join Date: Feb 2013
Posts: 2

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.
Aquarius is offline   Reply With Quote

Thread Tools

Posting Rules
You may not post new threads
You may not post replies
You may not post attachments
You may not edit your posts

BB code is On
Smilies are On
[IMG] code is On
HTML code is Off

All times are GMT -8. The time now is 02:46 AM.

Powered by vBulletin® Version 3.8.9
Copyright ©2000 - 2020, vBulletin Solutions, Inc.
Single Sign On provided by vBSSO