Structural variation in the human genome
Nature Genetics
April 5, 2010
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.
doi: 10.1038/ng.564
Research highlights
-
Jul 1
Criminology: Predicting police enforcement bias in major US citiesNature Human Behaviour
-
Jul 1
Evolution: Pandas gave bamboo the thumbs up at least six million years agoScientific Reports
-
Jul 1
Space health: The path of most resistance could help limit bone loss during spaceflightScientific Reports
-
Jun 30
Genomics: Gray wolf genome hints at dual ancestry of dogsNature
-
Jun 30
Evolution: Hawks learn on the fly to swoop up before perchingNature
-
Jun 30
Microbiology: Transmission of gastrointestinal viruses in salivaNature