Completing the map of human genetic variation

Eichler, E. E., Nickerson, D. A., Altshuler, D., Bowcock, A. M., Brooks, L. D., Carter, N. P., Church, D. M., Felsenfeld, A., Guyer, M., Lee, C., Lupski, J. R., Mullikin, J. C., Pritchard, J. K., Sebat, J., Sherry, S. T., Smith, D., Valle, D., Waterston, R. H. (May 2007) Completing the map of human genetic variation. Nature, 447 (7141). pp. 161-165. ISSN 0028-0836

URL: https://www.ncbi.nlm.nih.gov/pubmed/17495918
DOI: 10.1038/447161a

Abstract

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

Item Type: Paper
Uncontrolled Keywords: COPY-NUMBER POLYMORPHISMS HUMAN GENOME STRUCTURAL VARIATION LINKAGE DISEQUILIBRIUM SEGMENTAL DUPLICATIONS DELETION POLYMORPHISMS Y-CHROMOSOMES IDENTIFICATION DISEASE REARRANGEMENTS
Subjects: bioinformatics > genomics and proteomics > Mapping and Rendering
bioinformatics > genomics and proteomics > annotation > sequence annotation
bioinformatics > genomics and proteomics > Mapping and Rendering > Sequence Rendering
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > copy number variants
organism description > animal > mammal > primates > hominids > human
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > morphological divergence
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > spontaneous copy number variation
CSHL Authors:
Communities: CSHL labs > Sebat lab
Depositing User: CSHL Librarian
Date: May 2007
Date Deposited: 15 Nov 2011 16:51
Last Modified: 23 Mar 2018 15:55
PMCID: PMC2685471
Related URLs:
URI: http://repository.cshl.edu/id/eprint/23009

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