Segmenting the human genome based on states of neutral genetic divergence.

ABSTRACT: Many studies have demonstrated that divergence levels generated by different mutation types vary and covary across the human genome. To improve our still-incomplete understanding of the mechanistic basis of this phenomenon, we analyze several mutation types simultaneously, anchoring their variation to specific regions of the genome. Using hidden Markov models on insertion, deletion, nucleotide substitution, and microsatellite divergence estimates inferred from human-orangutan alignments of neutrally evolving genomic sequences, we segment the human genome into regions corresponding to different divergence states--each uniquely characterized by specific combinations of divergence levels. We then parsed the mutagenic contributions of various biochemical processes associating divergence states

SUBMITTER: Kuruppumullage Don P 

PROVIDER: S-EPMC3767554 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature