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


ABSTRACT: 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.

SUBMITTER: Arneson A 

PROVIDER: S-EPMC7745770 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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

Arneson Adriana A   Felsheim Brooke B   Chien Jennifer J   Ernst Jason J  

NAR genomics and bioinformatics 20201217 4


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. A  ...[more]

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