TY - JOUR T1 - Analysis of Sequence Conservation at Nucleotide Resolution A1 - Asthana, Saurabh A1 - Roytberg, Mikhail A1 - Stamatoyannopoulos, John A1 - Sunyaev, Shamil Y1 - 2007/12/28 N2 -
The structure of the human genome remains largely unknown, including which parts of the genome are functionally relevant and which parts are “junk.” The availability of genomic sequence from a large number of mammals allows a more detailed exploration of this structure, using comparison of related sequences from different species to identify portions of the genome that have remained unchanged, conserved by the action of natural selection, and thus likely to be functionally significant. To date, most efforts focused on localizing the functional fraction of the human genome have been based on identifying contiguous stretches of positions conserved in multiple species. Here, we present an analysis that is based instead on a single-position measure of conservation called SCONE. Our analysis suggests that the majority of conserved and putatively functional positions are highly fragmented and lie outside contiguous regions of conserved sequence. A subset of these fragmented positions may be identified based on local clustering.