Highlights from other journals

• Publisher: John Wiley and Sons
• Year: 2010
• Tongue: English
• Weight: 92 KB
• Volume: 32
• Category: Article
• ISSN: 0265-9247
• DOI: 10.1002/bies.201090023

✦ Synopsis

Human genetic variation is associated with common traits and common diseases, and recent findings demonstrate the presence of population-specific copy number variations (CNVs), particularly those that involve genes of relevance for diseases and drug metabolism. Whilst representing a significant development in that respect, uncovering CNVs' functional significance will also contribute to improved designs of future genetic studies in general. In recent years, the use of high density oligonucleotide arrays has revealed that structural variation, including deletions and duplications of genomic segments, is a major contributor to genetic variation. As a result, international efforts have concentrated on identifying such variation at very high resolution, as well as detecting population-specific CNVs. Two recent population studies have investigated the latter (using different platforms): one by Park et al. (Nature Genet 42:400-407, 2010) involving samples from Europe, Africa and Asia (Northern China and Japan); and another by Ku et al. (Hum Mutat 31: 2010), who assayed the presence of CNVs in South East Asian populations. The Singaporean population consists of a mixture of ethnic groups, and therefore studying a cross-section of that population would also provide genetic information relevant to a much wider, so far neglected, section of populations in India and China.adapted from original by Ioannis Ragoussis, Wellcome Trust Centre for Human Genetics, University of Oxford.