Bias of selection on human copy-number variants.

Journal article

Although large-scale copy-number variation is an important contributor to conspecific genomic diversity, whether these variants frequently contribute to human phenotype differences remains unknown. If they have few functional consequences, then copy-number variants (CNVs) might be expected both to be distributed uniformly throughout the human genome and to encode genes that are characteristic of the genome as a whole. We find that human CNVs are significantly overrepresented close to telomere...

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Authors: Nguyen, D; Webber, C; Ponting, C

• Publication status: Published
• Journal: PLoS genetics
• Volume: 2
• Issue: 2
• Pages: e20
• Publication date: 2006-02-01
• DOI: 10.1371/journal.pgen.0020020
• EISSN: 1553-7404
• ISSN: 1553-7390
• Language: English
• Keywords: Animals; Phenotype; Mice; Telomere; Gene Dosage; Genome; Genetic Variation; Centromere; Genome, Human; Selection, Genetic; Models, Genetic; DNA Mutational Analysis; Humans