Genome-wide identification of human functional DNA using a neutral indel model.

ABSTRACT: It has become clear that a large proportion of functional DNA in the human genome does not code for protein. Identification of this non-coding functional sequence using comparative approaches is proving difficult and has previously been thought to require deep sequencing of multiple vertebrates. Here we introduce a new model and comparative method that, instead of nucleotide substitutions, uses the evolutionary imprint of insertions and deletions (indels) to infer the past consequences of selection. The model predicts the distribution of indels under neutrality, and shows an excellent fit to human-mouse ancestral repeat data. Across the genome, many unusually long ungapped regions are detected that are unaccounted for by the neutral model, and which we predict to be highly enriched in func

SUBMITTER: Lunter G 

PROVIDER: S-EPMC1326222 | biostudies-literature | 2006 Jan

REPOSITORIES: biostudies-literature