KromaTiD Blog2022-04-06T13:19:00-06:00

KromaTiD’s Dark Lab Files: A Blog

Structural Variations in Rare and Undiagnosed Diseases

First let’s define what a Structural Variation is. A structural variation (SV) is generally defined as a region of DNA that shows a change in copy number (deletions, insertions and duplications), orientation (inversions) or chromosomal location (translocations) between [...]

February 17, 2022|

The Guardian of the Genome the TP53 Gene

Mutations in the TP53 Gene are where the most frequent alterations in human cancers show. These alterations cause Li-Fraumeni syndrome, creating a predisposition to a wide spectrum of early-onset cancers. Worldwide studies of this Gene are bringing new Gene Therapies [...]

January 25, 2022|

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