Tag: variation

Video Tip of the Week: 1000 Genomes Dataset Browser from NCBI

26 September, 2012 (09:32) | Tip of the Week | By: Jennifer

A recent NCBI Newsletter announced the release of a new resource named the 1000 Genomes Dataset Browser, and that is the resource that I will be featuring in this tip. It is one of the tools available through the new NCBI Variation resources page, which also features resources such as dbSNP, dbVar, dbGaP and ClinVar (many [...]

NHGRI human variation discussion live stream n̶o̶w̶ [recording available]

13 September, 2012 (08:59) | Genomics Research | By: Mary

There’s a meeting going on today that people might be interested in following if you are interested in analysis of human variation. Here’s how Chris Gunter described it on G+ last night: For serious genetics geeks:  the meeting organized by +Daniel MacArthur and myself (with lots of help from colleagues!), Implicating Sequence Variants in Human Disease, [...]

Video Tip of the Week: SNPeffect 4.0

1 February, 2012 (09:26) | Tip of the Week | By: Mary

One of the most frequent questions we hear when we do workshops is: how to I find out if this SNP has an effect on my favorite protein? Well, that’s assuming it is a coding SNP. Of course, promoter SNPs and splicing SNPs and other features would be great to assess as well. Right now, [...]

Video Tips of the Week: Annual Review IV, 2nd half

4 January, 2012 (08:11) | Tip of the Week | By: Trey

As you may know, we’ve been doing these video tips-of-the-week for FOUR years now. We have completed around 200 little tidbit introductions to various resources from last year, 2011 (yep, it’s 2012 now). At the end of the year we’ve established a sort of holiday tradition: we are doing a summary post to collect them all. If you have [...]

Video Tip of the Week: Variation Data from Ensembl

26 October, 2011 (09:03) | Tip of the Week | By: Jennifer

Trey introduced me to this “decent collection of video tutorials ” from Ensembl, but he and Mary are currently in Morocco teaching a 3-day bioinformatics workshop & then attending the conference (yes, I am envious!). I am therefore creating this week’s tip based on the tutorials that Trey pointed me to. In today’s tip I am [...]

Video Tip of the Week: VnD Resource for Genetic Variation and Drug Information

5 October, 2011 (08:34) | Tip of the Week | By: Jennifer

In today’s tip I am going to feature a resource that I found recently. I’ve been updating our dbSNP tutorial, which Mary & Trey will be presenting at workshops in Morocco, and also our free PDB tutorial, which is sponsored by the RCSB PDB team. I have therefore been thinking about protein structures and small [...]

dbSNP: no longer single….?

16 August, 2011 (14:18) | Genomics Resource News | By: Mary

I think this is very interesting–dbSNP has a new logo. dbSNP is no longer “single”. Keeping dbSNP as a professional name, but also has a new name for social situations: “Short Genetic Variations”. I was just checking my twitter feed, and found out something fascinating in the new release.  Here was the item that prompted [...]

SNPTips update (1.1)

15 June, 2011 (13:16) | Genomics Resource News | By: Trey

I did a tip of the week on SNPTips a few months ago (more information there). It’s a great addon to view your genomic data while browsing databases and web sites. They’ve moved to version 1.1. There are two nice new features and some bug fixes. The features are: *You can now use your deCODEme [...]

Tip of the Week: MutaDATABASE, a centralized and standardized DNA variation database

15 June, 2011 (09:19) | Genomics Research, Genomics Resource News, Tip of the Week | By: Mary

We all know and love dbSNP, and DGV, and 1000 Genomes, and HapMap, and OMIM, and the couple of other dozen variation databases I can think of off the top of my head. But–even though there’s a lot of stuff out there–you never know what you aren’t seeing. What *isn’t* yet stored in those resources?  [...]

Sage Bioinformatics Advice, But…

27 April, 2011 (12:43) | General Science | By: Jennifer

Bioinformatics analysis is a powerful technique applicable to a wide variety of fields, and the subject of many a blog post here at OpenHelix. I’ve had two particular bioinformatics articles on my desk for a couple of months now, waiting for me to be able to articulate my thoughts on them. They both offer great [...]