Researchers are now able to select a physical trait or phenotype and find the genomic variants associated with it by using a new web portal called the “Phenotype-Genotype Integrator” or referred to as (PheGenl). Genome-wide association studies have uncovered thousands of novel genetic variants associated with common diseases. However, data from the studies is often located in disparate databases that are hard to find, operate, or to be able to integrate the data for analysis.
PheGenl permits researchers to view a tabular display of genome-wide association study results for DNA sequence variations, genes, and gene expression differences for a given trait such as asthma or diabetes. For example, in a search for the trait “asthma” the data shows 88 genetic variant associations. The results are linked to their source databases where researchers can then dig deeper into the detailed data.
“This new web portal will help build the knowledge base that is crucial to accelerating research on genetic variations among basic scientists. It will also allow clinical researchers and epidemiologists who are unfamiliar with such data to explore genetic variations and the phenotype data that is related to the diseases they study” said, Lucia Hindorff, Ph.D., an epidemiologist in the National Human Genome Research Institute’s Office of Population Genomics. “PheGenl pulls genetic and genome-wide association studies data from multiple NIH databases and presents it compactly organized to the user.”
Today, PubMed has 20 million citations for biomedical literature available from Medline, life science journals, online books, links to full text content, and to PubMed Central plus publisher websites. In a recent development, PubMed Mobile Beta, a special lightweight web interface to make PubMed faster to load and easier to use on smartphones and other mobile devices, has gone live.
In addition, Mobile MedlinePlus available since 2010 builds on the NLM’s MedlinePlus Internet service and is available in English and Spanish at http://m.medlineplus.gov/spanish. The mobile version includes a subset of content from the full web site with summaries for over 800 diseases, wellness topics, latest health news, an illustrated medical encyclopedia, and information on prescriptions and medications.
The National Library of Medicine has recently announced that their “Wireless Information System for Emergency Responders (WISER) 4.4 is available. WISER can now be downloaded to the WISER Windows, Pocket PC, and to SmartPhone platforms from the web site. The WISER for iPhone/iPod touch 1.1 is available from Apple’s App store.
To further increase app resources, NLM has launched a software development contest to find apps that will display more of NLM’s biomedical data. The contest is open to individuals over the age of 18 and any organizations in the U.S. Submissions can be for any kind of software application whether it is for the web, a personal computer, a mobile handheld device, console, or any platform broadly accessible on the internet.
Winners will be recognized at an awards ceremony at NLM on November 2, 2011 and links to the winner’s app will be publicized on the NLM web site. Entries must be submitted to the http://.challenge.gov web site by August 31, 2011. For more information, email NLMDataChallenge@nlm.nih.gov.