Global variation in copy number in the human genome
Richard Redon1, Shumpei Ishikawa, Karen R Fitch
1The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Nature
|November 24, 2006
Summary
This study maps human genome copy number variation (CNV) across diverse populations. The findings reveal significant CNV content, impacting genetic diversity and disease studies.
Area of Science:
- Genomics
- Human Genetics
- Molecular Biology
Background:
- Copy number variation (CNV) in DNA sequences is functionally important but not fully understood.
- CNVs represent a significant source of genetic diversity and evolutionary change.
Purpose of the Study:
- To construct a first-generation map of copy number variable regions (CNVRs) in the human genome.
- To analyze the extent and distribution of CNVs in diverse human populations.
Main Methods:
- Screening of DNA from 270 individuals (HapMap collection) using SNP genotyping arrays.
- Utilizing clone-based comparative genomic hybridization to identify CNVs.
Main Results:
- Identification of 1,447 CNVRs covering 360 megabases (12% of the genome).
- CNVRs contain numerous genes, disease loci, functional elements, and segmental duplications.
- CNVs encompass more nucleotide content than SNPs and show population-specific variations.
Conclusions:
- The generated CNV map is a valuable resource for understanding human genetic diversity and evolution.
- The data highlights the significance of CNV in genetic studies, including disease research.
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