Sebat, J. (July 2007) Major changes in our DNA lead to major changes in our thinking. Nat Genet, 39 (7 Supp). S3-5. ISSN 1061-4036 (Print)
Abstract
Variability in the human genome has far exceeded expectations. In the course of the past three years, we have learned that much of our naturally occurring genetic variation consists of large-scale differences in genome structure, including copy-number variants (CNVs) and balanced rearrangements such as inversions. Recent studies have begun to reveal that structural variants are an important contributor to disease risk; however, structural variants as a class may not conform well to expectations of current methods for gene mapping. New approaches are needed to understand the contribution of structural variants to disease.
| Item Type: | Paper |
|---|---|
| Subjects: | bioinformatics > genomics and proteomics > Mapping and Rendering > DNA Structure Rendering bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > copy number variants |
| CSHL Authors: | |
| Communities: | CSHL labs > Sebat lab |
| Depositing User: | CSHL Librarian |
| Date: | July 2007 |
| Date Deposited: | 03 Nov 2011 18:27 |
| Last Modified: | 10 Apr 2018 16:02 |
| Related URLs: | |
| URI: | https://repository.cshl.edu/id/eprint/23135 |
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