The evolution and population diversity of human-specific segmental duplications

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Recent segmental duplications in the human genome.

Primate-specific segmental duplications are considered important in human disease and evolution. The inability to distinguish between allelic and duplication sequence overlap has hampered their characterization as well as assembly and annotation of our genome. We developed a method whereby each public sequence is analyzed at the clone level for overrepresentation within a whole-genome shotgun s...

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Phylogenomic analysis reveals ancient segmental duplications in the human genome.

Evolution of organismal complexity and origin of novelties during vertebrate history has been widely explored in context of both regulation of gene expression and gene duplication events. Ohno (1970) for the first time put forward the idea of two rounds whole genome duplication events as the most plausible explanation for evolutionarizing the vertebrate lineage (2R hypothesis). To test the vali...

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ژورنال

عنوان ژورنال: Nature Ecology & Evolution

سال: 2017

ISSN: 2397-334X

DOI: 10.1038/s41559-016-0069