Tag: OMIM

Video Tip of the Week: the new and improved OMIM®

9 January, 2013 (09:21) | Tip of the Week | By: Mary

For this week’s Tip of the Week we highlight our new tutorial on OMIM, Online Mendelian Inheritance in Man. If you haven’t looked at OMIM for a while, or if you usually only think about it as a link in some other database you use, look again. There’s more there than you realize. OMIM is [...]

Friday SNPpets

1 June, 2012 (09:07) | 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… RT @moorejh: #bioinformatics MT @brainpicker TreeVersity – interactive #visualization tool lets you compare tree diagrams http://t.co/09PMu6Oo [...]

What’s the Answer? (OMIM API now available)

3 May, 2012 (09:23) | 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. [...]

(one) Video Tip of the Week (to hold them all): Variation and Disease Databases

4 April, 2012 (08:20) | Tip of the Week | By: Trey

After again reading Daniel MacArthur’s good rundown about the state of databases of human disease-causing variation from last year (One database to hold them all), I thought it might be nice to do a tip comparing several of them. I couldn’t get it under our self-imposed 5 minute limit for our tips (and technical limit [...]

Video Tip of the Week: New Genetic Testing Registry (GTR) Resource

14 March, 2012 (08:08) | Tip of the Week | By: Jennifer

Late last month the National Center for Biotechnology Information, or NCBI, released a new resource containing information on genetic tests. The resource’s name is the Genetic Testing Registry (GTR), and according to its homepage, the GTR: ” provides a central location for voluntary submission of genetic test information by providers. The scope includes the test’s purpose, methodology, validity, [...]

Video Tip of the Week: OMIA, Online Mendelian Inheritance in Animals

15 February, 2012 (09:36) | Tip of the Week | By: Mary

Many people are probably familiar with OMIM, Online Mendelian Inheritance in Man. It’s one of the oldest online collections of human genetic traits around. But many people may not be aware that OMIM inspired OMIA–Online Mendelian Inheritance in Animals. The team from the University of Sydney that develops and curates OMIA collects information on animal [...]

Video Tips of the Week: Annual Review IV (first half of 2011)

28 December, 2011 (08:24) | Tip of the Week | By: Mary

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. 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 [...]

On a Mission for Protein Information

31 October, 2011 (18:17) | General Science | By: Jennifer

It’s probably just the human brain’s ability to connect dots  &  find patterns, but it can be interesting how many “unrelated” events and information bits accumulate in my head & eventually get mulled into an idea or theory. Take, for example, a recent biotech mixer, bits from an education leadership series & a past Nature [...]

What’s the Answer? disease causing SNPs

20 October, 2011 (08:16) | What's the Answer? | By: Trey

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. You can [...]

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 [...]