Standard Measures in Genomic Studies
This news story caught my eye and leads off simply enough:
Standards can make our lives better. We have standards for manufacturing many items — from car parts to nuts and bolts — that improve the reliability and compatibility of all sorts of widgets that we use in our daily lives. Without them, many tasks would be difficult, a bit like trying to fit a square peg into a round hole. There are even standard measures to collect information from participants of large population genomic studies that can be downloaded for free from the Consensus Measures for Phenotype and eXposures (PhenX) Toolkit [phenxtoolkit.org]. However, researchers will only adopt such standard measures if they can be used easily.
That is why the NHGRI’s Office of Population Genomics has launched a new effort called the PhenX Real-world Implementation and Sharing (PhenX RISING) program. The National Human Genome Research Institute (NHGRI) has awarded nearly $900,000, with an additional $100,000 from NIH Office of Behavioral and Social Sciences Research (OBSSR), to seven investigators to use and evaluate the standards. Each investigator will incorporate a variety of PhenX measures into their ongoing genome-wide association or large population study. These researchers will also make recommendations as to how to fine-tune the PhenX Toolkit.
OK, good for them, or at least the researchers who get the grants, but what does that have to do with topic maps?
Just a bit further the announcement says:
GWAS have identified more than a thousand associations between genetic variants and common diseases such as cancer and heart disease, but the majority of the studies do not share standard measures. PhenX standard measures are important because they allow researchers to more easily combine data from different studies to see if there are overlapping genetic factors between or among different diseases. This ability will improve researchers’ understanding of disease and may eventually be used to assess a patient’s genetic risk of getting a disease such as diabetes or cancer and to customize treatment.
OK, so there are existing studies that don’t share standard measures, there will be more studies while the PhenX RISING program goes on that don’t share standard measures and there may be future studies while PhenX RISING is being adjusted that don’t share standard measures.
Depending upon the nature of the measures that are not shared and the importance of mapping between these non-shared standards, this sounds like fertile ground for topic map prospecting.
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