Tag: copy number variation

Changes to DGV display standards (and yay standards!)

24 February, 2011 (11:56) | Genomics Resource News | By: Mary

This notice came from DGV (Database of Genomic Variants) while I was on vacation last week, but I wanted to highlight this for a couple of reasons. First–it’s very cool that these groups have now chosen to establish a standard across databases for the representations of the copy-number variation displays.  But I also like that [...]

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 [...]

Guest Post: CHOP’s new tool, CNV Workshop – Xiaowu Gai

2 March, 2010 (00:01) | Genomics Resource News, Guest Posts, New Resource | By: Guest

This next post in our continuing semi-regular Guest Post series is from Xiaowu Gai, the Bioinformatics Core Director at CHOP . If you are a provider of a free, publicly available genomics tool, database or resource and would like to convey something to users on our guest post feature, please feel free to contact us [...]

How do you represent genomes?

9 March, 2009 (16:49) | Genomics Research | By: Trey

Not just the genome, but genomeS. As Jan at Saaien Tist has mentioned, human (and other species) genomes are quiet variable. Though the linear representation of genome browsers makes perfect sense (like the UCSC Genome Browser, Ensembl, GBrowse and MapViewer among others) for much annotated data of the genome, structural variations are not so well [...]

Summary of webinar “CNVs vs. SNPs: Understanding Human Structural Variation in Disease”

11 November, 2008 (08:10) | General Science, Genomics Research, Guest Posts | By: Cyndy

Do you still believe that monozygotic, or identical, twins are really genetically identical? Or that we are all 99.9% genetically similar to each other? Well I certainly did, and boy was I wrong! It turns out that CNVs (Copy Number Variations) are causing the “facts” some of us learned in Molecular Biology 101 to be [...]