Discovery and characterization of chromatin states for systematic annotation of the human genome

摘要: A plethora of epigenetic modifications have been described in the human genome and shown to play diverse roles gene regulation, cellular differentiation onset disease. Although individual linked activity levels various genetic functional elements, their combinatorial patterns are still unresolved potential for systematic de novo annotation remains untapped. Here, we use a multivariate Hidden Markov Model reveal 'chromatin states' T cells, based on recurrent spatially coherent combinations chromatin marks. We define 51 distinct states, including promoter-associated, transcription-associated, active intergenic, large-scale repressed repeat-associated states. Each state shows specific enrichments annotations, sequence motifs experimentally observed characteristics, suggesting biological roles. This approach provides complementary that reveals genome-wide locations classes function.