Published in Nucleic Acids Res on November 15, 2012
A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet (2014) 14.56
Ensembl 2014. Nucleic Acids Res (2013) 12.62
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet (2014) 6.69
A draft map of the human proteome. Nature (2014) 6.58
The UCSC Genome Browser database: 2014 update. Nucleic Acids Res (2013) 6.54
Heritable genome editing in C. elegans via a CRISPR-Cas9 system. Nat Methods (2013) 5.93
An RNA-sequencing transcriptome and splicing database of glia, neurons, and vascular cells of the cerebral cortex. J Neurosci (2014) 5.52
dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations. Hum Mutat (2013) 5.11
The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Res (2013) 4.42
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Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat Genet (2013) 2.66
MycoCosm portal: gearing up for 1000 fungal genomes. Nucleic Acids Res (2013) 2.60
Track data hubs enable visualization of user-defined genome-wide annotations on the UCSC Genome Browser. Bioinformatics (2013) 2.42
Epigenetic memory at embryonic enhancers identified in DNA methylation maps from adult mouse tissues. Nat Genet (2013) 2.41
CRISPR interference (CRISPRi) for sequence-specific control of gene expression. Nat Protoc (2013) 2.05
Comprehensive analysis of DNA methylation data with RnBeads. Nat Methods (2014) 2.03
Epigenetic and genetic features of 24 colon cancer cell lines. Oncogenesis (2013) 2.02
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nat Genet (2013) 1.91
RADAR: a rigorously annotated database of A-to-I RNA editing. Nucleic Acids Res (2013) 1.88
The mouse Gene Expression Database (GXD): 2014 update. Nucleic Acids Res (2013) 1.78
Expression and regulation of intergenic long noncoding RNAs during T cell development and differentiation. Nat Immunol (2013) 1.71
Insulator function and topological domain border strength scale with architectural protein occupancy. Genome Biol (2014) 1.70
iRegulon: from a gene list to a gene regulatory network using large motif and track collections. PLoS Comput Biol (2014) 1.69
The 2013 Nucleic Acids Research Database Issue and the online molecular biology database collection. Nucleic Acids Res (2012) 1.66
Computational solutions for omics data. Nat Rev Genet (2013) 1.58
Gateways to the FANTOM5 promoter level mammalian expression atlas. Genome Biol (2015) 1.58
Transformation of intestinal stem cells into gastric stem cells on loss of transcription factor Cdx2. Nat Commun (2014) 1.56
Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing. Heart Rhythm (2014) 1.55
BAF complexes facilitate decatenation of DNA by topoisomerase IIα. Nature (2013) 1.52
Mammalian miRNA curation through next-generation sequencing. Front Genet (2013) 1.49
Somatic retrotransposition in human cancer revealed by whole-genome and exome sequencing. Genome Res (2014) 1.47
HIV latency and integration site placement in five cell-based models. Retrovirology (2013) 1.42
RNA-seq: impact of RNA degradation on transcript quantification. BMC Biol (2014) 1.41
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One (2013) 1.40
A pan-cancer analysis of transcriptome changes associated with somatic mutations in U2AF1 reveals commonly altered splicing events. PLoS One (2014) 1.40
Quantitative genome-wide enhancer activity maps for five Drosophila species show functional enhancer conservation and turnover during cis-regulatory evolution. Nat Genet (2014) 1.38
miR-1202 is a primate-specific and brain-enriched microRNA involved in major depression and antidepressant treatment. Nat Med (2014) 1.35
Strong purifying selection at synonymous sites in D. melanogaster. PLoS Genet (2013) 1.34
Lineage and species-specific long noncoding RNAs during erythro-megakaryocytic development. Blood (2014) 1.34
Mouse regulatory DNA landscapes reveal global principles of cis-regulatory evolution. Science (2014) 1.34
Functional DNA methylation differences between tissues, cell types, and across individuals discovered using the M&M algorithm. Genome Res (2013) 1.33
Deep proteome coverage based on ribosome profiling aids mass spectrometry-based protein and peptide discovery and provides evidence of alternative translation products and near-cognate translation initiation events. Mol Cell Proteomics (2013) 1.33
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing. Genome Biol (2014) 1.32
HLA typing from 1000 genomes whole genome and whole exome illumina data. PLoS One (2013) 1.29
GWIPS-viz: development of a ribo-seq genome browser. Nucleic Acids Res (2013) 1.28
Identification of active regulatory regions from DNA methylation data. Nucleic Acids Res (2013) 1.26
Transcriptome sequencing reveals altered long intergenic non-coding RNAs in lung cancer. Genome Biol (2014) 1.25
Towards precision medicine: advances in computational approaches for the analysis of human variants. J Mol Biol (2013) 1.23
The transcription factor p53: not a repressor, solely an activator. Cell Cycle (2014) 1.23
piRNA pathway targets active LINE1 elements to establish the repressive H3K9me3 mark in germ cells. Genes Dev (2014) 1.23
Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res (2013) 1.23
Evidence for the biogenesis of more than 1,000 novel human microRNAs. Genome Biol (2014) 1.23
G quadruplexes are genomewide targets of transcriptional helicases XPB and XPD. Nat Chem Biol (2014) 1.22
Early dissemination seeds metastasis in breast cancer. Nature (2016) 1.20
Characterization of RNA in exosomes secreted by human breast cancer cell lines using next-generation sequencing. PeerJ (2013) 1.17
Reducing the risk of false discovery enabling identification of biologically significant genome-wide methylation status using the HumanMethylation450 array. BMC Genomics (2014) 1.16
Comparative genomics as a tool to understand evolution and disease. Genome Res (2013) 1.16
Genomic analyses with biofilter 2.0: knowledge driven filtering, annotation, and model development. BioData Min (2013) 1.15
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. PLoS One (2014) 1.14
U2AF1 mutations alter splice site recognition in hematological malignancies. Genome Res (2014) 1.13
Abundance and distribution of transposable elements in two Drosophila QTL mapping resources. Mol Biol Evol (2013) 1.12
Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B. Genome Biol (2013) 1.12
Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature. Am J Hum Genet (2014) 1.10
Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite. Nat Genet (2015) 1.08
Euchromatic transposon insertions trigger production of novel Pi- and endo-siRNAs at the target sites in the drosophila germline. PLoS Genet (2014) 1.06
Regulation of gene expression by the BLM helicase correlates with the presence of G-quadruplex DNA motifs. Proc Natl Acad Sci U S A (2014) 1.05
A chromatin structure-based model accurately predicts DNA replication timing in human cells. Mol Syst Biol (2014) 1.04
Sample processing obscures cancer-specific alterations in leukemic transcriptomes. Proc Natl Acad Sci U S A (2014) 1.04
Predicting genome-wide DNA methylation using methylation marks, genomic position, and DNA regulatory elements. Genome Biol (2015) 1.03
InvFEST, a database integrating information of polymorphic inversions in the human genome. Nucleic Acids Res (2013) 1.03
Chromatin signature of widespread monoallelic expression. Elife (2013) 1.03
Circular RNAs are depleted of polymorphisms at microRNA binding sites. Bioinformatics (2014) 1.01
Widespread intron retention diversifies most cancer transcriptomes. Genome Med (2015) 1.01
Exploration of the gene fusion landscape of glioblastoma using transcriptome sequencing and copy number data. BMC Genomics (2013) 1.01
WiggleTools: parallel processing of large collections of genome-wide datasets for visualization and statistical analysis. Bioinformatics (2013) 1.01
A genome-wide linkage and association study of musical aptitude identifies loci containing genes related to inner ear development and neurocognitive functions. Mol Psychiatry (2014) 1.01
Enhanced transcriptome maps from multiple mouse tissues reveal evolutionary constraint in gene expression. Nat Commun (2015) 1.01
Anolis sex chromosomes are derived from a single ancestral pair. Evolution (2013) 1.01
TISdb: a database for alternative translation initiation in mammalian cells. Nucleic Acids Res (2013) 1.00
Open source libraries and frameworks for biological data visualisation: a guide for developers. Proteomics (2015) 1.00
The RNAsnp web server: predicting SNP effects on local RNA secondary structure. Nucleic Acids Res (2013) 1.00
Long noncoding RNA PANDA and scaffold-attachment-factor SAFA control senescence entry and exit. Nat Commun (2014) 0.99
Estrogen receptor α polymorphism in a species with alternative behavioral phenotypes. Proc Natl Acad Sci U S A (2014) 0.99
Synergetic regulatory networks mediated by oncogene-driven microRNAs and transcription factors in serous ovarian cancer. Mol Biosyst (2013) 0.99
Integrative analysis of tissue-specific methylation and alternative splicing identifies conserved transcription factor binding motifs. Nucleic Acids Res (2013) 0.98
Integrated Bio-Search: challenges and trends for the integration, search and comprehensive processing of biological information. BMC Bioinformatics (2014) 0.98
Modulation of splicing catalysis for therapeutic targeting of leukemia with mutations in genes encoding spliceosomal proteins. Nat Med (2016) 0.97
A model-based analysis of GC-biased gene conversion in the human and chimpanzee genomes. PLoS Genet (2013) 0.97
A novel RNA motif mediates the strict nuclear localization of a long noncoding RNA. Mol Cell Biol (2014) 0.96
Disease variants in genomes of 44 centenarians. Mol Genet Genomic Med (2014) 0.96
Rapid phenotypic and genomic change in response to therapeutic pressure in prostate cancer inferred by high content analysis of single circulating tumor cells. PLoS One (2014) 0.96
Small RNA profiling and characterization of piRNA clusters in the adult testes of the common marmoset, a model primate. RNA (2014) 0.96
Recurrent epimutations activate gene body promoters in primary glioblastoma. Genome Res (2014) 0.95
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. Mol Genet Metab (2014) 0.95
Developmental enhancers revealed by extensive DNA methylome maps of zebrafish early embryos. Nat Commun (2015) 0.95
Global DNA hypermethylation in down syndrome placenta. PLoS Genet (2013) 0.95
The complexity of thyroid transcription factor 1 with both pro- and anti-oncogenic activities. J Biol Chem (2013) 0.94
Highly conserved elements discovered in vertebrates are present in non-syntenic loci of tunicates, act as enhancers and can be transcribed during development. Nucleic Acids Res (2013) 0.94
The human genome browser at UCSC. Genome Res (2002) 168.23
dbSNP: the NCBI database of genetic variation. Nucleic Acids Res (2001) 76.97
An integrated encyclopedia of DNA elements in the human genome. Nature (2012) 64.73
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A (2009) 54.68
The variant call format and VCFtools. Bioinformatics (2011) 25.88
Aligning multiple genomic sequences with the threaded blockset aligner. Genome Res (2004) 24.52
The UCSC Genome Browser Database: 2008 update. Nucleic Acids Res (2007) 23.13
The Catalogue of Somatic Mutations in Cancer (COSMIC). Curr Protoc Hum Genet (2008) 16.09
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes. Genome Res (2009) 14.90
The UCSC Known Genes. Bioinformatics (2006) 14.67
Ensembl 2012. Nucleic Acids Res (2011) 14.55
McKusick's Online Mendelian Inheritance in Man (OMIM). Nucleic Acids Res (2008) 12.83
GenBank. Nucleic Acids Res (2010) 8.63
The UCSC Genome Browser database: extensions and updates 2011. Nucleic Acids Res (2011) 6.88
The Rat Genome Database, update 2007--easing the path from disease to data and back again. Nucleic Acids Res (2006) 4.80
ENCODE whole-genome data in the UCSC Genome Browser: update 2012. Nucleic Acids Res (2011) 4.00
GeneTests-GeneClinics: genetic testing information for a growing audience. Hum Mutat (2002) 2.97
Sequence ontology annotation guide. Comp Funct Genomics (2004) 2.77
miRcode: a map of putative microRNA target sites in the long non-coding transcriptome. Bioinformatics (2012) 2.13
Annotating genes and genomes with DNA sequences extracted from biomedical articles. Bioinformatics (2011) 1.91
Epigenetic signatures of autism: trimethylated H3K4 landscapes in prefrontal neurons. Arch Gen Psychiatry (2011) 1.81
An in-depth map of polyadenylation sites in cancer. Nucleic Acids Res (2012) 1.71
The human genome browser at UCSC. Genome Res (2002) 168.23
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res (2005) 44.08
Galaxy: a platform for interactive large-scale genome analysis. Genome Res (2005) 35.75
Human-mouse alignments with BLASTZ. Genome Res (2003) 35.49
The UCSC Table Browser data retrieval tool. Nucleic Acids Res (2004) 25.12
Aligning multiple genomic sequences with the threaded blockset aligner. Genome Res (2004) 24.52
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
International network of cancer genome projects. Nature (2010) 20.35
GENCODE: the reference human genome annotation for The ENCODE Project. Genome Res (2012) 19.19
Evolution of genes and genomes on the Drosophila phylogeny. Nature (2007) 18.01
Ultraconserved elements in the human genome. Science (2004) 17.14
The UCSC Genome Browser database: update 2010. Nucleic Acids Res (2009) 16.58
Evolution's cauldron: duplication, deletion, and rearrangement in the mouse and human genomes. Proc Natl Acad Sci U S A (2003) 16.58
The UCSC Genome Browser database: update 2011. Nucleic Acids Res (2010) 16.24
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes. Genome Res (2009) 14.90
The UCSC Known Genes. Bioinformatics (2006) 14.67
Assessing computational tools for the discovery of transcription factor binding sites. Nat Biotechnol (2005) 14.29
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res (2009) 12.58
The somatic genomic landscape of glioblastoma. Cell (2013) 11.73
Discovery of functional elements in 12 Drosophila genomes using evolutionary signatures. Nature (2007) 11.66
Covariation in frequencies of substitution, deletion, transposition, and recombination during eutherian evolution. Genome Res (2003) 11.12