Major changes in our DNA lead to major changes in our thinking

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)

URL: https://www.ncbi.nlm.nih.gov/pubmed/17597778
DOI: 10.1038/ng2095

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: http://repository.cshl.edu/id/eprint/23135

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