Completing the map of human genetic variation.
作者：
DOI: 10.1038/447161A
关键词: Evolutionary biology 、 Genetic variation 、 Copy-number variation 、 1000 Genomes Project 、 Human genome 、 Human genetic variation 、 Genetics 、 Genomics 、 Human genetics 、 Genome 、 Biology
摘要: Large-scale studies of human genetic variation have focused largely on understanding the pattern and nature single-nucleotide differences within genome. Recent that identified larger polymorphisms, such as insertions, deletions inversions, emphasize value investing in more comprehensive systematic structural variation. We describe a community resource project recently launched by National Human Genome Research Institute (NHGRI) to sequence large-insert clones from many individuals, systematically discovering resolving these complex variants at DNA level. The includes discovery through development clone resources, resolution variants, accurate typing individuals African, European or Asian ancestry. Sequence both larger-scale genomic will improve our picture natural populations enhance ability link genetics health.
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