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

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 g...

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Autores principales: Arneson, Adriana, Felsheim, Brooke, Chien, Jennifer, Ernst, Jason
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7745770/
https://www.ncbi.nlm.nih.gov/pubmed/33543124
http://dx.doi.org/10.1093/nargab/lqaa104
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author Arneson, Adriana
Felsheim, Brooke
Chien, Jennifer
Ernst, Jason
author_facet Arneson, Adriana
Felsheim, Brooke
Chien, Jennifer
Ernst, Jason
author_sort Arneson, Adriana
collection PubMed
description 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.
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spelling pubmed-77457702021-02-03 ConsHMM Atlas: conservation state annotations for major genomes and human genetic variation Arneson, Adriana Felsheim, Brooke Chien, Jennifer Ernst, Jason NAR Genom Bioinform APP Notes 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. Oxford University Press 2020-12-17 /pmc/articles/PMC7745770/ /pubmed/33543124 http://dx.doi.org/10.1093/nargab/lqaa104 Text en © The Author(s) 2020. Published by Oxford University Press on behalf of NAR Genomics and Bioinformatics. https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle APP Notes
Arneson, Adriana
Felsheim, Brooke
Chien, Jennifer
Ernst, Jason
ConsHMM Atlas: conservation state annotations for major genomes and human genetic variation
title ConsHMM Atlas: conservation state annotations for major genomes and human genetic variation
title_full ConsHMM Atlas: conservation state annotations for major genomes and human genetic variation
title_fullStr ConsHMM Atlas: conservation state annotations for major genomes and human genetic variation
title_full_unstemmed ConsHMM Atlas: conservation state annotations for major genomes and human genetic variation
title_short ConsHMM Atlas: conservation state annotations for major genomes and human genetic variation
title_sort conshmm atlas: conservation state annotations for major genomes and human genetic variation
topic APP Notes
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7745770/
https://www.ncbi.nlm.nih.gov/pubmed/33543124
http://dx.doi.org/10.1093/nargab/lqaa104
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