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BarkBase:犬基因组的表观基因组注释。

BarkBase: Epigenomic Annotation of Canine Genomes.

机构信息

Vertebrate Genomics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.

Bioinformatics and Integrative Biology, University of Massachusetts Medical School, Worcester, MA 01655, USA.

出版信息

Genes (Basel). 2019 Jun 7;10(6):433. doi: 10.3390/genes10060433.

Abstract

Dogs are an unparalleled natural model for investigating the genetics of health and disease, particularly for complex diseases like cancer. Comprehensive genomic annotation of regulatory elements active in healthy canine tissues is crucial both for identifying candidate causal variants and for designing functional studies needed to translate genetic associations into disease insight. Currently, canine geneticists rely primarily on annotations of the human or mouse genome that have been remapped to dog, an approach that misses dog-specific features. Here, we describe BarkBase, a canine epigenomic resource available at barkbase.org. BarkBase hosts data for 27 adult tissue types, with biological replicates, and for one sample of up to five tissues sampled at each of four carefully staged embryonic time points. RNA sequencing is complemented with whole genome sequencing and with assay for transposase-accessible chromatin using sequencing (ATAC-seq), which identifies open chromatin regions. By including replicates, we can more confidently discern tissue-specific transcripts and assess differential gene expression between tissues and timepoints. By offering data in easy-to-use file formats, through a visual browser modeled on similar genomic resources for human, BarkBase introduces a powerful new resource to support comparative studies in dogs and humans.

摘要

狗是研究健康和疾病遗传学的无与伦比的天然模型,特别是对于癌症等复杂疾病。全面注释健康犬组织中活跃的调控元件对于鉴定候选因果变异体以及设计将遗传关联转化为疾病见解所需的功能研究至关重要。目前,犬遗传学家主要依赖于已被重新映射到犬的人类或小鼠基因组注释,这种方法会错过犬特有的特征。在这里,我们描述了 BarkBase,这是一个可在 barkbase.org 获得的犬类表观基因组资源。BarkBase 为 27 种成年组织类型提供了具有生物学重复的数据集,以及多达五个组织的样本,每个样本在四个精心分期的胚胎时间点采集。RNA 测序与全基因组测序和使用测序进行转座酶可及染色质检测 (ATAC-seq) 相结合,可识别开放染色质区域。通过包括重复样本,我们可以更有信心地识别组织特异性转录本,并评估组织和时间点之间的差异基因表达。通过提供易于使用的文件格式的数据,并通过类似于人类的类似基因组资源的可视化浏览器提供数据,BarkBase 为支持犬类和人类的比较研究引入了一个强大的新资源。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/193a/6627511/d0e10d75261c/genes-10-00433-g001.jpg

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