Also, for the developer types: they offer a way for you to interact with the Aquaria software to add your own features of interest with their API. Maybe you have new mutations you have found in some sequence you’ve obtained in your lab, for example. They are offering guidance on that here: http://bit.ly/aquaria-features. They touch on this in the longer video (~27min) if you want a bit more explanation. I suspect from the high quality support they are offering, they’d be interested to hear from you and what features you’d like to see applied to these proteins as well.

So kudos to this team for a nifty tool and really serious multi-media outreach efforts. I think it was well done on all counts. I’ll bet you Reddit reached more of the right folks than a press release ever will. PIOs take note–get your scientists on Reddit.

OpenHelix will be exhibiting at the International Molecular Medicine Tri-Conference (MMTC or TRICON) at booth 129, February 16-18. While onsite at the Tri-Conference, we invite you to demo OpenHelix and not only learn how to enable more effective research, but receive a Starbucks gift card for completing the demo.

The 22nd International Molecular Medicine Tri-Conference is the industry’s Preeminent Event on Molecular Medicine, focusing on Drug Discovery, Genomics, Diagnostics and Information Technology. Spanning six days this year, the Tri-Conference includes an expanded program that includes 6 symposia, over 20 short courses, and 17 conference programs.

OpenHelix provides over 100 tutorial suites on popular and powerful bioinformatics and genomics tools. Each tutorial suites includes 30-60 minute tutorials highlight and explain the features and functionality needed to start using a resource effectively. The tutorial suites also include PowerPoint slides, handouts and exercises to save time and money in teaching others.

An OpenHelix subscription to the tutorials enables quicker and more effective research at your institution through more efficient use of the publicly available tools to access biological data. Join some of the best universities, research institutions, and biotech companies in training scientists on how to use these critical tools.

To schedule your 5 minute demonstration of the OpenHelix site and tutorial suites (and receive a Starbuck’s gift card), email Scott Lathe or call (425) 442-0322. We will be at booth 129 in the Tri-Conference Exhibit Hall.

This week’s tip of the week is on Gemini which is the acronym for “GENome MINing.” Unlike most of the tips we give every week, this one is a software package. But, it is does use and integrate with many internet databases such as dbSNP, ENCODE, UCSC, ClinVar and KEGG. It’s also a freely available, open source tool and quite a useful software package that gives the researcher the ability to create quite complex queries based on genotypes, inheritance patterns, etc.  The above 12 minute clip is a talk given at a conference that gives a introduction of the science behind the tool.

Modern DNA sequencing technologies enable geneticists to rapidly identify genetic variation among many human genomes. However, isolating the minority of variants underlying disease remains an important, yet formidable challenge for medical genetics. We have developed GEMINI (GEnome MINIng), a flexible software package for exploring all forms of human genetic variation. Unlike existing tools, GEMINI integrates genetic variation with a diverse and adaptable set of genome annotations (e.g., dbSNP, ENCODE, UCSC, ClinVar, KEGG) into a unified database to facilitate interpretation and data exploration. Whereas other methods provide an inflexible set of variant filters or prioritization methods, GEMINI allows researchers to compose complex queries based on sample genotypes, inheritance patterns, and both pre-installed and custom genome annotations. GEMINI also provides methods for ad hoc queries and data exploration, a simple programming interface for custom analyses that leverage the underlying database, and both command line and graphical tools for common analyses. We demonstrate GEMINI’s utility for exploring variation in personal genomes and family based genetic studies, and illustrate its ability to scale to studies involving thousands of human samples. GEMINI is designed for reproducibility and flexibility and our goal is to provide researchers with a standard framework for medical genomics.