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- Title
Massively parallel sequencing and rare disease.
- Authors
Ng, Sarah B; Nickerson, Deborah A; Bamshad, Michael J; Shendure, Jay
- Abstract
Massively parallel sequencing has enabled the rapid, systematic identification of variants on a large scale. This has, in turn, accelerated the pace of gene discovery and disease diagnosis on a molecular level and has the potential to revolutionize methods particularly for the analysis of Mendelian disease. Using massively parallel sequencing has enabled investigators to interrogate variants both in the context of linkage intervals and also on a genome-wide scale, in the absence of linkage information entirely. The primary challenge now is to distinguish between background polymorphisms and pathogenic mutations. Recently developed strategies for rare monogenic disorders have met with some early success. These strategies include filtering for potential causal variants based on frequency and function, and also ranking variants based on conservation scores and predicted deleteriousness to protein structure. Here, we review the recent literature in the use of high-throughput sequence data and its analysis in the discovery of causal mutations for rare disorders.
- Publication
Human molecular genetics, 2010, Vol 19, Issue R2, pR119
- ISSN
1460-2083
- Publication type
Journal Article
- DOI
10.1093/hmg/ddq390