FORGEdb: a tool for identifying candidate functional variants and uncovering target genes and mechanisms for complex diseases

被引:0
|
作者
Charles E. Breeze
Eric Haugen
María Gutierrez-Arcelus
Xiaozheng Yao
Andrew Teschendorff
Stephan Beck
Ian Dunham
John Stamatoyannopoulos
Nora Franceschini
Mitchell J. Machiela
Sonja I. Berndt
机构
[1] National Cancer Institute,Division of Cancer Epidemiology and Genetics
[2] National Institutes of Health,Division of Immunology, Department of Pediatrics
[3] Altius Institute for Biomedical Sciences,CAS Key Lab of Computational Biology, Shanghai Institute for Biological Sciences
[4] UCL Cancer Institute,European Molecular Biology Laboratory
[5] University College London,Department of Epidemiology
[6] Boston Children’s Hospital,undefined
[7] Harvard Medical School,undefined
[8] Broad Institute of MIT and Harvard,undefined
[9] CAS-MPG Partner Institute for Computational Biology,undefined
[10] Chinese Academy of Sciences,undefined
[11] European Bioinformatics Institute (EMBL-EBI),undefined
[12] University of North Carolina,undefined
来源
关键词
Gene regulation; Functional annotation; Variant scoring; Regulatory elements; Genome-wide association study (GWAS); Expression quantitative trait locus (eQTL); Massively parallel reporter assay (MPRA); Activity-by-contact (ABC); DNase-seq; Transcription factor (TF); CRISPR (clustered regularly interspaced short palindromic repeats); Single guide RNA (sgRNA);
D O I
暂无
中图分类号
学科分类号
摘要
The majority of disease-associated variants identified through genome-wide association studies are located outside of protein-coding regions. Prioritizing candidate regulatory variants and gene targets to identify potential biological mechanisms for further functional experiments can be challenging. To address this challenge, we developed FORGEdb (https://forgedb.cancer.gov/; https://forge2.altiusinstitute.org/files/forgedb.html; and https://doi.org/10.5281/zenodo.10067458), a standalone and web-based tool that integrates multiple datasets, delivering information on associated regulatory elements, transcription factor binding sites, and target genes for over 37 million variants. FORGEdb scores provide researchers with a quantitative assessment of the relative importance of each variant for targeted functional experiments.
引用
收藏
相关论文
共 50 条
  • [21] LOF variants identifying candidate genes of laterality defects patients with congenital heart disease
    Liu, Sijie
    Wei, Wei
    Wang, Pengcheng
    Liu, Chunjie
    Jiang, Xuechao
    Li, Tingting
    Li, Fen
    Wu, Yurong
    Chen, Sun
    Sun, Kun
    Xu, Rang
    PLOS GENETICS, 2022, 18 (12):
  • [22] A Systematic Approach for Identifying Causal Variants and Their Target Genes on JIA Risk Haplotypes
    Jiang, Kaiyu
    liu, tao
    Tewhey, Ryan
    Kales, Susan
    Park, Yungki
    Jarvis, James N.
    ARTHRITIS & RHEUMATOLOGY, 2023, 75 : 51 - 52
  • [23] Candidate target genes in sepsis diagnosis and therapy: identifying hub genes with a spotlight on KLRB1
    Wang, Chen
    Chen, Haoran
    Ding, Jinqiu
    Tang, Xinyi
    Yu, Dian
    Xie, Yongpeng
    Li, Xiaomin
    BMC INFECTIOUS DISEASES, 2025, 25 (01)
  • [24] Identifying a series of candidate genes for mania and psychosis: a convergent functional genomics approach
    Niculescu, AB
    Segal, DS
    Kuczenski, R
    Barrett, T
    Hauger, RL
    Kelsoe, JR
    PHYSIOLOGICAL GENOMICS, 2000, 4 (01) : 83 - 91
  • [25] Prioritization and functional assessment of noncoding variants associated with complex diseases
    Lin Zhou
    Fangqing Zhao
    Genome Medicine, 10
  • [26] Prioritization and functional assessment of noncoding variants associated with complex diseases
    Zhou, Lin
    Zhao, Fangqing
    GENOME MEDICINE, 2018, 10
  • [27] Rare variants in drug target genes contributing to complex diseases, phenome-wide (vol 8, 15911, 2018)
    Verma, Shefali Setia
    Josyula, Navya
    Verma, Anurag
    Zhang, Xinyuan
    Veturi, Yogasudha
    Dewey, Frederick E.
    Hartzel, Dustin N.
    Lavage, Daniel R.
    Leader, Joe
    Ritchie, Marylyn D.
    Pendergrass, Sarah A.
    SCIENTIFIC REPORTS, 2018, 8
  • [28] Unravelling the complex genetics of common kidney diseases: from variants to mechanisms
    Katie Marie Sullivan
    Katalin Susztak
    Nature Reviews Nephrology, 2020, 16 : 628 - 640
  • [29] Unravelling the complex genetics of common kidney diseases: from variants to mechanisms
    Sullivan, Katie Marie
    Susztak, Katalin
    NATURE REVIEWS NEPHROLOGY, 2020, 16 (11) : 628 - 640
  • [30] Identifying candidate genes for mania and psychosis using a convergent functional genomics approach.
    Niculescu, AB
    Segal, DS
    Kuczenski, R
    Barrett, T
    Hauger, R
    Kelsoe, JR
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 96 (04): : 481 - 481