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Identification and analysis of functional elements in 1% of the human genome by

Identification and analysis of functional
elements in 1% of the human genome by
the ENCODE pilot project
The ENCODE Project Consortium*
We reportthegenerationandanalysisoffunctionaldata frommultiple,diverseexperimentsperformedon atargeted 1%ofthe
human genome as part of the pilot phase of the ENCODE Project. These data have been further integrated and augmented by a
number of evolutionary and computational analyses. Together, our results advance the collective knowledge about human
genome function in several major areas. First, our studies provide convincing evidence that the genome is pervasively
transcribed, such that the majority of its bases can be found in primary transcripts, including non-protein-coding transcripts,
and those that extensively overlap one another. Second, systematic examination of transcriptional regulation has yielded new
understanding about transcription start sites, including their relationship to specific regulatory sequences and features of
chromatin accessibility and histone modification. Third, a more sophisticated view of chromatin structure has emerged,
including its inter-relationship with DNA replication and transcriptional regulation. Finally, integration of these new sources of
information, in particular with respect to mammalian evolution based on inter- and intra-species sequence comparisons, has
yielded new mechanistic and evolutionary insights concerningthefunctional landscapeof the human genome.Together, these
studies are defining a path for pursuit of a more comprehensive characterization of human genome function.
The human genome is an elegant but cryptic store of information. The
roughly three billion bases encode, either directly or indirectly, the
instructions for synthesizing nearly all the molecules that form each


Source: Abecasis, Goncalo - Department of Biostatistics, University of Michigan
Gerstein, Mark - Department of Molecular Biophysics and Biochemistry, Yale University
Iyer, Vishy - Institute for Cellular and Molecular Biology, University of Texas at Austin
Tullius, Thomas D. - Department of Chemistry, Boston University


Collections: Biology and Medicine; Biotechnology; Chemistry; Mathematics