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ConsHMM Atlas: conservation state annotations for major genomes and human genetic variation.

Adriana ArnesonBrooke FelsheimJennifer ChienJason Ernst
Published in: NAR genomics and bioinformatics (2020)
ConsHMM is a method recently introduced to annotate genomes into conservation states, which are defined based on the combinatorial and spatial patterns of which species align to and match a reference genome in a multi-species DNA sequence alignment. Previously, ConsHMM was only applied to a single genome for one multi-species sequence alignment. Here, we apply ConsHMM to produce 22 additional genome annotations covering human and seven other organisms for a variety of multi-species alignments. Additionally, we extend ConsHMM to generate allele-specific annotations, which we use to produce conservation state annotations for every possible single-nucleotide mutation in the human genome. Finally, we provide a web interface to interactively visualize parameters and annotation enrichments for ConsHMM models. These annotations and visualizations comprise the ConsHMM Atlas, which we expect will be a valuable resource for analyzing a variety of major genomes and genetic variation.
Keyphrases
  • endothelial cells
  • genome wide
  • induced pluripotent stem cells
  • pluripotent stem cells
  • single cell
  • genetic diversity
  • gene expression
  • dna methylation