Bioinformatics · 2015 · 17 citations · 17 references
Life SciencesBioinformaticsGeneticsGene ExpressionGenomicsPathway AnalysisDna SequencingFunctional GenomicsPathway AnnotationPathway CurationPathway ReconstructionRegulatory GenomicsCollective EffectsIntegrated Pathway ScoringNext-generation Sequencing AnalysisPathway InterpretationPathway-level Classification ScoresTranscripts
UNLABELLED: Seq2pathway is an R/Python wrapper for pathway (or functional gene-set) analysis of genomic loci, adapted for advances in genome research. Seq2pathway associates the biological significance of genomic loci with their target transcripts and then summarizes the quantified values on the gene-level into pathway scores. It is designed to isolate systematic disturbances and common biological underpinnings from next-generation sequencing (NGS) data. Seq2pathway offers Bioconductor users enhanced capability in discovering collective pathway effects caused by both coding genes and cis-regulation of non-coding elements. AVAILABILITY AND IMPLEMENTATION: The package is freely available at http://www.bioconductor.org/packages/release/bioc/html/seq2pathway.html. CONTACT: xyang2@uchicago.edu SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
17
GENCODE: The reference human genome annotation for The ENCODE Project
Jennifer Harrow, Adam Frankish, José M. González et al. · Genome Research · 2012 · 5K citations · Full text
Reprogramming transcription by distinct classes of enhancers functionally defined by eRNA
Dong Wang, Ivan García-Bassets, Christopher Benner et al. · Nature · 2011 · 829 citations
IntOGen-mutations identifies cancer drivers across tumor types
Abel González-Pérez, Christian Perez-Llamas, Jordi Deu-Pons et al. · Nature Methods · 2013 · 631 citations · Full text
Human-specific loss of regulatory DNA and the evolution of human-specific traits
Cory Y. McLean, Philip L. Reno, Alex A. Pollen et al. · Nature · 2011 · 562 citations · Full text