NEW HAVEN, Conn., October 20, 2009 --- Biomedical researchers on the cutting edge of autism research are seeking services that integrate vast quantities of highly heterogeneous data, according to analysts at Prometheus Research, a leading provider of informatics services to biomedical research community.
The growing trend is offering “unprecedented opportunities to explore correlations between phenotypes and genotypes in some very interesting populations,” says Dr. Leon Rozenblit, President of Prometheus Research. “We’re witnessing a paradigm shift in the way biomedical research is being conducted, especially research into complex human disorders, such as autism.”
The “publish-and-forget model is not sustainable,” according to Rozenblit. “Research is growing increasingly open and collaborative; even support for prepublication release of data is becoming a mainstream opinion.”
Research into complex human disorders has moved into a new era, what Informatics analysts at Prometheus call “Research 2.0,” an era in which critical data is no longer “left trapped in a post-doc’s laptop,” according to David Voccola, Vice President of Research Informatics Services.
Innovation is occurring at both the grassroots and the industrial levels in the processing of vast amounts of raw data, such as those generated by CNV analysis, according to Voccola, who this week is attending the American Society of Human Genetics conference in Honolulu, HA. “Some of our clients are working on their own segmentation algorithms, and we want to build tools that support storing the results of this experimentation. The leaders in this market will be those who are committed to building tools that enable these and other investigations.”
As a result, Prometheus Research Informatics is developing its own module for storing genetics data, which is currently in beta testing with researchers affiliated with the groundbreaking Simons Simplex Collection effort. The critical elements of the new module are multi-fold, according to Voccola. They are:
Make it Integrated. New web-enabled software tools must allow researchers to interact with genetics data alongside the variety of phenotypic data types already supported by informatics platform, such as Prometheus Research Informatics’ RexDB®.
Support Iterations. Making sense of the raw results produced during genetic analyses is often an iterative process. The value is in optionally storing results generated during multiple iterations.
Consistently Store the Inconsistent. Much of genetic analysis is searching for meaningful inconsistencies (variations) in the makeup of an affected sample; however, different analyses produce variants in differing resolutions. Informatics systems must reconcile these differences to ensure accurate querying.
Save it for Later. Informatics systems need to allow researchers to define subsamples that meet particular phenotypic and/or genetic criteria for referencing in data sets and queries.
Play Nicely with Others. With so much energy going into building public repositories and developing downstream analysis and visualization tools, the future of informatics will be defined by easy integration with the tool(s) of choice, whether they be old standbys, like the UCSC Genome Browser or PLINK, or tools developed just for a single lab.
About Prometheus Research
Prometheus Research, New Haven, Conn., is a software development and professional services company innovating web-based tools to empower knowledge workers by making existing databases easily available on the web. Prometheus HT//SQL quickly translates the language of the web (HTTP) into the language of databases (SQL), allowing businesses and organizations to securely access and increase their intelligence through dynamic, real-time, web-based database management. Our markets include research institutions, research funding organizations, governments, and global businesses. Prometheus Research Informatics, our biomedical applications and informatics services, is used by world-renowned researchers and simplifies development of custom informatics systems for secure access to rich scientific data.
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