SNP Interpretation Guide

This SNP Array Interpretation Guide was produced by Timothy Fee, PhD as a resource for laboratory diagnosticians involved in SNP array analysis. It covers the main types of aberrations visible on SNP array as well as more complex mosaic situations. This work was presented (virtually) at the American Cytogenetics Conference in June 2021.

Toddler looking at a book with her parents

Meet Nora

Meet the Eysen family! Two-year-old Nora was diagnosed with Infantile Pompe disease at birth. Her family received much-needed information and support in those first days from the Greenwood Genetic Center, and thanks to a quick diagnosis, Nora is on treatment, healthy, and thriving. And she is now a proud big sister!...

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