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Joint ABRF Study Benchmarks DNA Variant Tests

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As if to prove the interdisciplinary nature of the field, three working groups under the Association of Biomolecular Resource Facilities umbrella joined forces to evaluate genotyping platforms. The project is now halfway complete, with a pilot study that wrapped up earlier this year and a broader, second-year program just getting started.

The pilot project was led by Katia Sol-Church from the AI duPont Hospital for Children and the DNA sequencing, fragment analysis, and nucleic acid working groups of ABRF. “The most important lesson from the pilot is that we can do it,” Sol-Church says. The study comprised a series of blinded test samples to be genotyped at several loci across a number of core labs.

Preliminary data from the pilot are too early-stage to use as evaluations, says Sol-Church, but they provided a chance to “iron out all the problems” of such a large-scale and cross-platform study.

Currently, Sol-Church and the team are busy inviting all ABRF member labs to join in the second phase of the program, which will help determine which platform to use for a particular kind of sample. “They really need to be further validated,” she says.

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