Today marks the commercial availability of BaseSpace, including the fully supported and intuitive BaseSpace App Store for quick and easy access to Illumina and third-party bioinformatics applications. Check out the detailed post in the BaseSpace blog, to learn more about three new apps from Omixon, Elsevier, and PicardSpace, as well as the new ISAAC alignment and variant calling app. We’re also debuting the Public Data tab, making it easy to locate example datasets and match them to the right apps to explore new analytical workflows. More requested updates and features are now turned on, and a slew of resources including web pages, documentation, and videos all add value to the BaseSpace user and developer experience. Lots of hard work, skill, and creativity went into this latest release- so get on BaseSpace and let us know what you think!

Roll on over to the BaseSpace blog to check out the next major update to our genomics cloud computing environment. That's right, we are officially moving out of beta, and we will be switching on e-commerce capability in the next few days with iCredits, allowing the purchase of apps in our BaseSpace store.

Did you know that May is cystic fibrosis awareness month? Cystic fibrosis (CF) is one of the most common autosomal recessive genetic disorders in the Western world. Without effective screening and early detection, patients face serious health conditions that impact their quality of life and life expectancy. Sean Young is a 15-year old from San Diego who, along with his family, has become a powerful advocate for CF awareness. His mother Katrina sums up their mission: “One of the best gifts I think we’re able to give our son is CF advocacy. By promoting awareness and raising money for research, we’re moving in a positive direction, and it gives us a sense of ownership and control. We are going to beat CF and we’re going to do it for our child.”

Are you exploring options for cancer data analysis? Have you checked out the Tumor/Normal Sequencing dataset in BaseSpace, Illumina’s cloud computing environment for next-generation sequencing data analysis? Are you interested but not sure how to view this data? Then check out the set of short tutorial videos we recently added to our Tumor Sequencing Data Analysis web page.

In late 2012, chances are that seismic instruments detected small tremors in Melbourne, Australia; East Boothbay, Maine; and San Antonio, Texas from all the jumping up and down as research teams learned they had just won a MiSeq system. The inaugural MiSeq Grant program was developed to enable any researcher‒from novices to current Illumina customers anywhere in the world‒to gain access to next-generation sequencing (NGS) to further their research, and advance innovation in applications that can only be enabled by NGS capabilities.

A stellar lineup of international and local speakers presented across a range of topics from cancer, inherited disease to forensics and a thought-provoking set of microbial speakers. Even though I may decide to hang on during my next plane ride (more later), sequencing continues to excite as a tool to drive not only research but increasingly patient-focused questions.

It used to be that microarrays, particularly Illumina Infinium BeadChips, were the technology to use in deciphering plant and animal genomes. Genotyping arrays forged the foundation of the genomics movement in agriculture, identifying single nucleotide polymorphisms (SNPs) associated with desired phenotypic traits that researchers have used to improve livestock breeding and crop yields. While they are no longer the only solution, arrays remain an excellent fit for screening of large populations where established trait-association and loss of function variants are known and where volume pricing offers a cost per sample that tips the scale toward an array approach. 

Genomics is an indecisive teenager that is scared to move out of the research lab and get a real job. His parents that have been funding him for a long time, and now they want him to start paying his own way in the world. He will, but it’s a big step- and he’s going to need some guidance because, well, he’s different. 

After several days of fascinating and varied talks by a multitude of talented researchers at the Human Genome Meeting/International Congress of Genetics, my head is swimming – and I doubt that I’m the only one. Midway through the conference, we celebrated ten years since the Human Genome Project was officially completed. At the time, this milestone was heralded as the dawn of the genomic era where researchers and clinicians would be able to leverage this new level of understanding to produce incredible discoveries, and deliver significant benefits to the world. Ten years on and the discoveries have been incredible, but once again we appear to have underestimated the phenomenal complexity of biological systems and our ability to understand and manipulate them. Our fancy new tools and databases have unleashed upon us a tsunami of new information, and the question on everyone’s lips is – what does it all mean?

Up until recently, scientists understood the biological function of just 1% of the genome, mainly the regions coding proteins. The non-coding regions were thought to be “junk”, evolutionary debris with no critical function.