Structure & repeats

Not every genetic variant is a single letter. This area explains larger changes: copy number such as the Lp(a) KIV-2 segment, repeat expansions and structural variants.

3 articles

• Lp(a) and KIV-2KILDAA repeat region in the LPA gene drives a cardiovascular risk.
• Repeat expansionsExpansionHunterShort DNA repeats that turn pathogenic past a threshold.
• Structural variantsMantaLarge rearrangements in the genome: deletions, duplications, inversions.