Nucleic Acids Research · 2016 · 225 citations · 19 references
Life SciencesBioinformaticsGeneticsComputational BiologyGenomic Data AnalysisGenomicsFunctional GenomicsGenomic AnnotationGenomic DatabasesGenomic PredictionRegulatory GenomicsBinding Site SpecificityBinding Specificity PredictionGenome Annotation DatabasesPosition Weight Matrix EstimationRegulatory VariationSingle-nucleotide PolymorphismsTranscription Factor Binding AnnotationTranscription Factor Binding Site Annotation
SNP2TFBS is a computational resource intended to support researchers investigating the molecular mechanisms underlying regulatory variation in the human genome. The database essentially consists of a collection of text files providing specific annotations for human single nucleotide polymorphisms (SNPs), namely whether they are predicted to abolish, create or change the affinity of one or several transcription factor (TF) binding sites. A SNP's effect on TF binding is estimated based on a position weight matrix (PWM) model for the binding specificity of the corresponding factor. These data files are regenerated at regular intervals by an automatic procedure that takes as input a reference genome, a comprehensive SNP catalogue and a collection of PWMs. SNP2TFBS is also accessible over a web interface, enabling users to view the information provided for an individual SNP, to extract SNPs based on various search criteria, to annotate uploaded sets of SNPs or to display statistics about the frequencies of binding sites affected by selected SNPs. Homepage: http://ccg.vital-it.ch/snp2tfbs/.
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The Sequence Alignment/Map format and SAMtools
Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text
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