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Interpreting noncoding genetic variation in complex traits and human disease

Author(s)
Kellis, Manolis; Ward, Lucas D.
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Abstract
Association studies provide genome-wide information about the genetic basis of complex disease, but medical research has focused primarily on protein-coding variants, owing to the difficulty of interpreting noncoding mutations. This picture has changed with advances in the systematic annotation of functional noncoding elements. Evolutionary conservation, functional genomics, chromatin state, sequence motifs and molecular quantitative trait loci all provide complementary information about the function of noncoding sequences. These functional maps can help with prioritizing variants on risk haplotypes, filtering mutations encountered in the clinic and performing systems-level analyses to reveal processes underlying disease associations. Advances in predictive modeling can enable data-set integration to reveal pathways shared across loci and alleles, and richer regulatory models can guide the search for epistatic interactions. Lastly, new massively parallel reporter experiments can systematically validate regulatory predictions. Ultimately, advances in regulatory and systems genomics can help unleash the value of whole-genome sequencing for personalized genomic risk assessment, diagnosis and treatment.
Date issued
2012-11
URI
http://hdl.handle.net/1721.1/87003
Department
Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory; Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science
Journal
Nature Biotechnology
Publisher
Nature Publishing Group
Citation
Ward, Lucas D, and Manolis Kellis. “Interpreting Noncoding Genetic Variation in Complex Traits and Human Disease.” Nature Biotechnology 30, no. 11 (November 8, 2012): 1095–1106.
Version: Author's final manuscript
ISSN
1087-0156
1546-1696

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