Variant analysis

Problem

The Neuromuscular Research Unit team at the University of Tampere School of Medicine was diagnosing and studying patients with hereditary muscle diseases. They had recently taken up targeted DNA sequencing as their primary research methodology and needed help in analyzing the resulting data.

Solution

We designed a reporting format that would be the most convenient for the geneticists to use, and analyzed the samples in order to identify the most probable pathogenic SNPs.

Outcome

The geneticists were able to efficiently analyze variation in several genes, and the researchers were able to easily perform genetic studies with the material.

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