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ANANASTRA:SNP 处等位基因特异性转录因子结合的注释和富集分析。

ANANASTRA: annotation and enrichment analysis of allele-specific transcription factor binding at SNPs.

机构信息

Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, 119991, Russia.

Moscow Institute of Physics and Technology, Dolgoprudny, 141701, Russia.

出版信息

Nucleic Acids Res. 2022 Jul 5;50(W1):W51-W56. doi: 10.1093/nar/gkac262.


DOI:10.1093/nar/gkac262
PMID:35446421
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9252736/
Abstract

We present ANANASTRA, https://ananastra.autosome.org, a web server for the identification and annotation of regulatory single-nucleotide polymorphisms (SNPs) with allele-specific binding events. ANANASTRA accepts a list of dbSNP IDs or a VCF file and reports allele-specific binding (ASB) sites of particular transcription factors or in specific cell types, highlighting those with ASBs significantly enriched at SNPs in the query list. ANANASTRA is built on top of a systematic analysis of allelic imbalance in ChIP-Seq experiments and performs the ASB enrichment test against background sets of SNPs found in the same source experiments as ASB sites but not displaying significant allelic imbalance. We illustrate ANANASTRA usage with selected case studies and expect that ANANASTRA will help to conduct the follow-up of GWAS in terms of establishing functional hypotheses and designing experimental verification.

摘要

我们介绍了 ANANASTRA,网址为 https://ananastra.autosome.org,这是一个用于识别和注释具有等位基因特异性结合事件的调控单核苷酸多态性(SNP)的网络服务器。ANANASTRA 接受 dbSNP ID 列表或 VCF 文件,并报告特定转录因子或特定细胞类型中的等位基因特异性结合(ASB)位点,突出显示在查询列表中 SNP 处具有显著富集 ASB 的位点。ANANASTRA 建立在对 ChIP-Seq 实验中等位基因失衡的系统分析之上,并针对在 ASB 位点相同来源实验中发现的但未显示显著等位基因失衡的 SNP 的背景集执行 ASB 富集测试。我们使用选定的案例研究来说明 ANANASTRA 的用法,并期望 ANANASTRA 将有助于根据建立功能假设和设计实验验证来跟进 GWAS。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb46/9252736/7cfabfb11c0c/gkac262fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb46/9252736/01bb75214817/gkac262figgra1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb46/9252736/5bf15606e96d/gkac262fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb46/9252736/7cfabfb11c0c/gkac262fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb46/9252736/01bb75214817/gkac262figgra1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb46/9252736/5bf15606e96d/gkac262fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb46/9252736/7cfabfb11c0c/gkac262fig2.jpg

相似文献

[1]
ANANASTRA: annotation and enrichment analysis of allele-specific transcription factor binding at SNPs.

Nucleic Acids Res. 2022-7-5

[2]
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BMC Bioinformatics. 2023-12-8

[3]
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[4]
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[5]
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[6]
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[7]
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[8]
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[9]
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[10]
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[8]
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本文引用的文献

[1]
Positional weight matrices have sufficient prediction power for analysis of noncoding variants.

F1000Res. 2022

[2]
Severe COVID-19-associated variants linked to chemokine receptor gene control in monocytes and macrophages.

Genome Biol. 2022-4-14

[3]
Fuchs Endothelial Corneal Dystrophy associated risk variant, rs3768617 in LAMC1 shows allele specific binding of GFI1B.

Gene. 2022-4-5

[4]
COVID-19 genetic risk variants are associated with expression of multiple genes in diverse immune cell types.

Nat Commun. 2021-11-19

[5]
VannoPortal: multiscale functional annotation of human genetic variants for interrogating molecular mechanism of traits and diseases.

Nucleic Acids Res. 2022-1-7

[6]
A Panel of rSNPs Demonstrating Allelic Asymmetry in Both ChIP-seq and RNA-seq Data and the Search for Their Phenotypic Outcomes through Analysis of DEGs.

Int J Mol Sci. 2021-7-6

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Immune-Based Prediction of COVID-19 Severity and Chronicity Decoded Using Machine Learning.

Front Immunol. 2021

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Mapping the human genetic architecture of COVID-19.

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Association of CXCR6 with COVID-19 severity: delineating the host genetic factors in transcriptomic regulation.

Hum Genet. 2021-9

[10]
A Crohn's Disease-associated IL2RA Enhancer Variant Determines the Balance of T Cell Immunity by Regulating Responsiveness to IL-2 Signalling.

J Crohns Colitis. 2021-12-18

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