Recent Segmental Duplications in the Human Genome

摘要: Primate-specific segmental duplications are considered important in human disease and evolution. The inability to distinguish between allelic duplication sequence overlap has hampered their characterization as well assembly annotation of our genome. We developed a method whereby each public is analyzed at the clone level for overrepresentation within whole-genome shotgun sequence. This test ability detect larger than 15 kilobases irrespective copy number, location, or high similarity. mapped 169 large regions flanked by highly similar duplications. Twenty-four these hot spots genomic instability have been associated with genetic disease. Our analysis indicates nonrandom chromosomal genic distribution recent duplications, likely role expanding protein diversity.