Structural variation in the human genome

Two studies focusing on improving methods for the identification and analysis of structural variants ― also known as copy number variants (CNVs) ― are published online this week in Nature Genetics. Structural genetic variants, which are characterized by deletions, duplications, and similar mutations, establish the bulk of differences between any two human genomes. Each study provides a resource for characterizing large amounts of structural variation in individual human genomes.

Jeong-Sun Seo and colleagues performed a high-resolution analysis on the genomes of 30 Asian individuals from Korea, China and Japan. They then integrated whole-genome sequence data from three individuals, including one newly sequenced genome of a Korean female, and identified 3,547 CNVs that are potentially Asian-specific.

In a separate study, Matthew Hurles and colleagues analyzed three individual genomes and mapped over 300 CNVs with precise, base-pair resolution. Their findings revealed new insights into the underlying mutational mechanisms of CNVs.