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

التفاصيل البيبلوغرافية
العنوان: ConsHMM Atlas: conservation state annotations for major genomes and human genetic variation
المؤلفون: Jason Ernst, Adriana Arneson, Jennifer Chien, Brooke Felsheim
المصدر: NAR Genomics and Bioinformatics
بيانات النشر: Oxford University Press, 2020.
سنة النشر: 2020
مصطلحات موضوعية: AcademicSubjects/SCI01140, 0303 health sciences, AcademicSubjects/SCI01060, Computer science, 0206 medical engineering, AcademicSubjects/SCI00030, APP Notes, Sequence alignment, 02 engineering and technology, Computational biology, Human genetic variation, AcademicSubjects/SCI01180, Genome, Single nucleotide mutation, 03 medical and health sciences, Annotation, 0302 clinical medicine, Genetic variation, Human genome, AcademicSubjects/SCI00980, User interface, 030217 neurology & neurosurgery, 020602 bioinformatics, 030304 developmental biology, Reference genome
الوصف: 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.
اللغة: English
تدمد: 2631-9268
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cc7f4064d8a9b73bb638470b7b49ca9
http://europepmc.org/articles/PMC7745770
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....8cc7f4064d8a9b73bb638470b7b49ca9
قاعدة البيانات: OpenAIRE