Anotando as regiões não codificantes do genoma

domingo, julho 18, 2010

Nature Reviews Genetics 11, 559-571 (August 2010) | doi:10.1038/nrg2814

Annotating non-coding regions of the genome

Roger P. Alexander1,2, Gang Fang1,2, Joel Rozowsky2, Michael Snyder3 & Mark B. Gerstein1,2,4

Most of the human genome consists of non-protein-coding DNA. Recently, progress has been made in annotating these non-coding regions through the interpretation of functional genomics experiments and comparative sequence analysis. One can conceptualize functional genomics analysis as involving a sequence of steps: turning the output of an experiment into a 'signal' at each base pair of the genome; smoothing this signal and segmenting it into small blocks of initial annotation; and then clustering these small blocks into larger derived annotations and networks. Finally, one can relate functional genomics annotations to conserved units and measures of conservation derived from comparative sequence analysis.

Author affiliations

Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut 06520, USA.
Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut 06520, USA.
Department of Genetics, Stanford University, Stanford, California 94305, USA.
Department of Computer Science, Yale University, New Haven, Connecticut 06520, USA.

Correspondence to: Mark B. Gerstein1,2,4 Email: mark.gerstein@yale.edu

Published online 13 July 2010

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