Segmenting the human genome based on states of neutral genetic divergence

• Published in: Proceedings of the National Academy of Sciences - PNAS Vol. 110; no. 36; pp. 14699 - 14704
• Main Authors: Don, Prabhani Kuruppumullage, Ananda, Guruprasad, Chiaromonte, Francesca, Makova, Kateryna D.
• Format: Journal Article
• Language: English
• Published: United States National Academy of Sciences 03.09.2013; National Acad Sciences
• Subjects: Algorithms; Animals; autosomes; biochemical pathways; Biological Sciences; Chromatin; Chromosomes; cytosine; Deoxyribonucleic acid; DNA; Evolution; Evolution, Molecular; GC Rich Sequence - genetics; genes; Genetic mutation; Genetic Variation; Genetics; Genome - genetics; Genome, Human - genetics; Genomes; Genomics; Human genome; Human subjects; Humans; Macaca; Markov chain; Markov Chains; microsatellite repeats; Microsatellites; Models, Genetic; Monkeys & apes; mutagenicity; Mutation; neoplasms; Pongo; prediction; X chromosome

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...