Reduced purifying selection prevails over positive selection in human copy number variant evolution

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Reduced purifying selection prevails over positive selection in human copy number variant evolution.

Copy number variation is a dominant contributor to genomic variation and may frequently underlie an individual's variable susceptibilities to disease. Here we question our previous proposition that copy number variants (CNVs) are often retained in the human population because of their adaptive benefit. We show that genic biases of CNVs are best explained, not by positive selection, but by reduc...

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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 o...

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ژورنال

عنوان ژورنال: Genome Research

سال: 2008

ISSN: 1088-9051

DOI: 10.1101/gr.077289.108