Tag: snp

What’s the answer? (1000Genomes SNPs issues)

12 July, 2012 (09:00) | What's the Answer? | By: Mary

BioStar is a site for asking, answering and discussing bioinformatics questions. We are members of thecommunity and find it very useful. Often questions and answers arise at BioStar that are germane to our readers (end users of genomics resources). Every Thursday we will be highlighting one of those questions and answers here in this thread. [...]

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 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 [...]

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?  [...]

Friday SNPpets

24 December, 2010 (09:22) | Genomics Resource News, SNPpets | By: Mary

Welcome to our Friday feature link collection: SNPpets. During the week we come across a lot of links and reads that we think are interesting, but don’t make it to a blog post. Here they are for your enjoyment… Galaxy users in San Diego–check out this note about upcoming opportunity to talk w/ Galaxy dev: [...]

Tip of the Week: A year of tips III (first half of 2010)

22 December, 2010 (09:00) | General Science, Genomics Research, Genomics Resource News, Tip of the Week | By: Mary

As you may know, we’ve been doing tips-of-the-week for three years now. We have completed around 150 little tidbit introductions to various resources*. 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 missed any of them it’s a [...]

Tip of the Week: Varietas. A plaid database.

8 September, 2010 (09:05) | Genomics Research, Genomics Resource News, Tip of the Week | By: Mary

For this week’s Tip of the Week I’ll introduce Varietas, a resource that integrates human variation information such as SNP and CNV data, and offers a handy tabular output with links to additional databases that will enable researchers to quickly explore other sources of information about the variations or regions of interest. I think this [...]

Tip of the Week: Genome Variation Tour III

30 June, 2010 (00:17) | General Science, Tip of the Week | By: Trey

Today’s tip is the continuation of researching a single SNP in an individual genome. Trey will use a dbSNP RS ID to find linkage disequilibrium information between a SNP of interest and SNPs in the region easily and quickly. GVS, the Genome Variation Server at the University of Washington to analyze a dbSNP rs ID [...]

Tip of the Week: International Cancer Genome Consortium

28 April, 2010 (09:10) | Genomics News, Genomics Research, Genomics Resource News, New Resource, Tip of the Week | By: Mary

So, remember that tidal wave of data we were going to get from the human genome project?  Yeah.  That was a puddle compared to what’s coming your way now. For this week’s tip of the week I will introduce the very ambitious big data project from the International Cancer Genome Consortium (ICGC).  In addition, you’ll [...]