Annotation of functional variation in personal genomes using RegulomeDB
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Summary
A novel approach and database, RegulomeDB, which guides interpretation of regulatory variants in the human genome, which includes high-throughput, experimental data sets from ENCODE and other sources, as well as computational predictions and manual annotations to identify putative regulatory potential and identify functional variants.
- Type
- article
- Published
- 2012-09-01
- Cited by
- 2,741
- References
- 56
- Access
- Open access
- OpenAlex
- https://openalex.org/W2141820415
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:21892531
Keywords
Biology, Genome, Annotation, ENCODE, Genome-wide association study
References
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- Association Between a Functional Variant Downstream of TNFAIP3 and Systemic Lupus Erythematosus
- Diversity and Complexity in DNA Recognition by Transcription Factors
- Mapping the Genetic Architecture of Gene Expression in Human Liver
- Discovery and characterization of chromatin states for systematic annotation of the human genome
- Differentiation-specific histone modifications reveal dynamic chromatin interactions and alternative partners for the intestinal transcription factor CDX2
Cited by
- Identification of Functional Variants in Alzheimer's Disease-Associated Genes
- Fine mapping of variants associated with endometriosis in the WNT4 region on chromosome 1p36.
- Linking disease associations with regulatory information in the human genome
- [Double-stranded DNA microarray: principal, techniques and applications].
- Molecular prioritization strategies to identify functional genetic variants in the cardiovascular disease-associated expression QTL Vanin-1
- GSTM1, GSTP1, and GSTT1 genetic variability in Turkish and worldwide populations
- Whole genome sequences of two octogenarians with sustained cognitive abilities
- Childhood asthma is associated with polymorphic markers of PROC on 2q14 in addition to 17q21 locus
- Rare variant association studies: considerations, challenges and opportunities
- A glutamatergic network mediates lithium response in bipolar disorder as defined by epigenome pathway analysis.
- ABCC3 Genetic Variants are Associated with Postoperative Morphine-induced Respiratory Depression and Morphine Pharmacokinetics in Children
- Genome-wide association study identifies four novel loci associated with Alzheimer’s endophenotypes and disease modifiers
- Single-nucleotide polymorphisms of stemness genes predicted to regulate RNA splicing, microRNA and oncogenic signaling are associated with prostate cancer survival
- Polymorphism in lncRNA AC016683.6 and its interaction with smoking exposure on the susceptibility of lung cancer
- Left ventricular remodeling after the first myocardial infarction in association with LGALS-3 neighbouring variants rs2274273 and rs17128183 and its relative mRNA expression: a prospective study
- Analysis of FOXO3 gene polymorphisms associated with human longevity.
- CLOCK Polymorphisms in Attention-Deficit/Hyperactivity Disorder (ADHD): Further Evidence Linking Sleep and Circadian Disturbances and ADHD
- A contemporary view of genes and behavior: complex systems and interactions.
- Exploring the role of genetic variation at the leptin and leptin receptor genes (LEP and LEPR) in obesity and hypertension in a black South African cohort
- Gene-environment interaction in age-related macular degeneration: Exogenous estrogen, cigarette smoking, and VEGF pathway polymorphisms
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