F1000Research · 2017 · 16 citations · 4 references
Life SciencesBioinformaticsGeneticsGenomic Data AnalysisGenomic InformaticsGenomicsGenome AnnotationGenome-wide Association StudiesGenomic Data IntegrationGenomic DatabasesGenomics IntegrationVariant InterpretationAnnotation ToolsBioinformatic PipelinesGenetic Variant AnnotationGenome-wide Association InterpretationVariant AnnotationVariant Annotation SystemsVariant Data Integration
<ns4:p> There exists a set of web-based tools for integration and exploring information linked to annotated genetic variants. We developed <ns4:italic>haploR</ns4:italic> , an R-package for querying such web-based genome annotation tools (currently implementing on HaploReg and RegulomeDB) and gathering information in a format suitable for downstream bioinformatic analyses. This will facilitate post-genome wide association studies streamline analysis for rapid discovery and interpretation of genetic associations. </ns4:p>
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Annotation of functional variation in personal genomes using RegulomeDB
Alan P. Boyle, Eurie L. Hong, Manoj Hariharan et al. · Genome Research · 2012 · 2.9K citations · Full text
The ENCODE (ENCyclopedia Of DNA Elements) Project
Science · 2004 · 2.5K citations
Nathan C. Sheffield, Robert E. Thurman, Lingyun Song et al. · Genome Research · 2013 · 235 citations · Full text