Published in PLoS One on November 30, 2011
Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells. Nature (2012) 3.09
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet (2013) 1.30
Using high-density DNA methylation arrays to profile copy number alterations. Genome Biol (2014) 1.11
Personal genomes, quantitative dynamic omics and personalized medicine. Quant Biol (2013) 0.98
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res (2013) 0.96
The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. Front Genet (2013) 0.96
Current analysis platforms and methods for detecting copy number variation. Physiol Genomics (2012) 0.94
Human Structural Variation: Mechanisms of Chromosome Rearrangements. Trends Genet (2015) 0.93
Copy number variation in the horse genome. PLoS Genet (2014) 0.86
Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts. Front Genet (2014) 0.86
The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population. Eur J Hum Genet (2013) 0.83
Expanding probe repertoire and improving reproducibility in human genomic hybridization. Nucleic Acids Res (2013) 0.81
Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss. BMC Genomics (2014) 0.81
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors. J Vis Exp (2016) 0.79
Extensive load of somatic CNVs in the human placenta. Sci Rep (2015) 0.78
Assessing the reproducibility of exome copy number variations predictions. Genome Med (2016) 0.77
Improved Detection and Characterization of Copy Number Variations Among Diverse Pig Breeds by Array CGH. G3 (Bethesda) (2015) 0.77
Connecting Anxiety and Genomic Copy Number Variation: A Genome-Wide Analysis in CD-1 Mice. PLoS One (2015) 0.75
Global spectrum of copy number variations reveals genome organizational plasticity and proposes new migration routes. PLoS One (2015) 0.75
46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly. Am J Med Genet A (2015) 0.75
The fetal thymus has a unique genomic copy number profile resulting from physiological T cell receptor gene rearrangement. Sci Rep (2016) 0.75
Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans. BMC Genomics (2017) 0.75
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
The International HapMap Project. Nature (2003) 73.65
Global variation in copy number in the human genome. Nature (2006) 57.50
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
Paired-end mapping reveals extensive structural variation in the human genome. Science (2007) 30.46
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet (2008) 19.55
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
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
The UCSC Genome Browser Database: update 2006. Nucleic Acids Res (2006) 11.05
Mechanisms of change in gene copy number. Nat Rev Genet (2009) 9.01
Structural variation in the human genome and its role in disease. Annu Rev Med (2010) 7.85
Genome structural variation discovery and genotyping. Nat Rev Genet (2011) 7.34
Computational methods for discovering structural variation with next-generation sequencing. Nat Methods (2009) 7.20
CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res (2011) 6.97
The fine-scale and complex architecture of human copy-number variation. Am J Hum Genet (2008) 5.08
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat Genet (2010) 3.49
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol (2011) 3.25
Towards a comprehensive structural variation map of an individual human genome. Genome Biol (2010) 2.79
The functional impact of structural variation in humans. Trends Genet (2008) 2.03
Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis. Genomics (2008) 1.76
AGE: defining breakpoints of genomic structural variants at single-nucleotide resolution, through optimal alignments with gap excision. Bioinformatics (2011) 1.75
High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution. PLoS Genet (2008) 1.60
The pitfalls of platform comparison: DNA copy number array technologies assessed. BMC Genomics (2009) 1.55
High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians. Genome Biol (2009) 1.49
Novel common copy number variation for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysis. Hum Mol Genet (2010) 1.40
Dosage sensitivity shapes the evolution of copy-number varied regions. PLoS One (2010) 1.30
Optimizing copy number variation analysis using genome-wide short sequence oligonucleotide arrays. Nucleic Acids Res (2010) 0.98
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation. BMC Med Genomics (2011) 0.88
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
RNA-Seq: a revolutionary tool for transcriptomics. Nat Rev Genet (2009) 58.77
The transcriptional landscape of the yeast genome defined by RNA sequencing. Science (2008) 48.99
Genome-wide profiles of STAT1 DNA association using chromatin immunoprecipitation and massively parallel sequencing. Nat Methods (2007) 45.04
Functional profiling of the Saccharomyces cerevisiae genome. Nature (2002) 36.10
Paired-end mapping reveals extensive structural variation in the human genome. Science (2007) 30.46
Global landscape of protein complexes in the yeast Saccharomyces cerevisiae. Nature (2006) 24.29
Landscape of transcription in human cells. Nature (2012) 20.18
GENCODE: the reference human genome annotation for The ENCODE Project. Genome Res (2012) 19.19
Global identification of human transcribed sequences with genome tiling arrays. Science (2004) 17.85
A map of the interactome network of the metazoan C. elegans. Science (2004) 15.60
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell (2012) 12.32
A Bayesian networks approach for predicting protein-protein interactions from genomic data. Science (2003) 12.07
Unlocking the secrets of the genome. Nature (2009) 11.80
Annotation of functional variation in personal genomes using RegulomeDB. Genome Res (2012) 11.47
PeakSeq enables systematic scoring of ChIP-seq experiments relative to controls. Nat Biotechnol (2009) 11.28
High-quality binary protein interaction map of the yeast interactome network. Science (2008) 10.65
Integrative analysis of the Caenorhabditis elegans genome by the modENCODE project. Science (2010) 9.78
Variation in transcription factor binding among humans. Science (2010) 9.33
Genomic analysis of regulatory network dynamics reveals large topological changes. Nature (2004) 9.32
ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia. Genome Res (2012) 9.13
Extensive promoter-centered chromatin interactions provide a topological basis for transcription regulation. Cell (2012) 8.41
The minimum information required for reporting a molecular interaction experiment (MIMIx). Nat Biotechnol (2007) 8.24
Subcellular localization of the yeast proteome. Genes Dev (2002) 7.93
Global analysis of protein phosphorylation in yeast. Nature (2005) 7.46
HTRA1 promoter polymorphism in wet age-related macular degeneration. Science (2006) 7.12
Performance comparison of exome DNA sequencing technologies. Nat Biotechnol (2011) 7.11
Divergence of transcription factor binding sites across related yeast species. Science (2007) 7.10
Comparing protein abundance and mRNA expression levels on a genomic scale. Genome Biol (2003) 6.98
CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res (2011) 6.97
The transcriptional activity of human Chromosome 22. Genes Dev (2003) 6.82
Rapid analysis of the DNA-binding specificities of transcription factors with DNA microarrays. Nat Genet (2004) 6.33
Biochemical and genetic analysis of the yeast proteome with a movable ORF collection. Genes Dev (2005) 6.14
Performance comparison of whole-genome sequencing platforms. Nat Biotechnol (2011) 5.79
Relating whole-genome expression data with protein-protein interactions. Genome Res (2002) 5.78
The importance of bottlenecks in protein networks: correlation with gene essentiality and expression dynamics. PLoS Comput Biol (2007) 5.63
Millions of years of evolution preserved: a comprehensive catalog of the processed pseudogenes in the human genome. Genome Res (2003) 5.49
Linking disease associations with regulatory information in the human genome. Genome Res (2012) 5.47
Annotation transfer between genomes: protein-protein interologs and protein-DNA regulogs. Genome Res (2004) 5.26
Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library. Nat Biotechnol (2009) 5.13
What is a gene, post-ENCODE? History and updated definition. Genome Res (2007) 4.96
High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays. Proc Natl Acad Sci U S A (2006) 4.84
Sequence features and chromatin structure around the genomic regions bound by 119 human transcription factors. Genome Res (2012) 4.80
A cis-regulatory map of the Drosophila genome. Nature (2011) 4.80
AlleleSeq: analysis of allele-specific expression and binding in a network framework. Mol Syst Biol (2011) 4.71
Intrinsic histone-DNA interactions are not the major determinant of nucleosome positions in vivo. Nat Struct Mol Biol (2009) 4.64
New insights into Acinetobacter baumannii pathogenesis revealed by high-density pyrosequencing and transposon mutagenesis. Genes Dev (2007) 4.62
Mapping of transcription factor binding regions in mammalian cells by ChIP: comparison of array- and sequencing-based technologies. Genome Res (2007) 4.59
Structure and evolution of transcriptional regulatory networks. Curr Opin Struct Biol (2004) 4.48
PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data. Genome Biol (2009) 4.18
An encyclopedia of mouse DNA elements (Mouse ENCODE). Genome Biol (2012) 4.15
Genome-wide relationship between histone H3 lysine 4 mono- and tri-methylation and transcription factor binding. Genome Res (2008) 4.11
Systematic evaluation of variability in ChIP-chip experiments using predefined DNA targets. Genome Res (2008) 4.08
Distribution of NF-kappaB-binding sites across human chromosome 22. Proc Natl Acad Sci U S A (2003) 3.89
An integrated approach for finding overlooked genes in yeast. Nat Biotechnol (2002) 3.88
Deep sequencing of subcellular RNA fractions shows splicing to be predominantly co-transcriptional in the human genome but inefficient for lncRNAs. Genome Res (2012) 3.83
Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution. Genome Res (2007) 3.82
Pseudogene.org: a comprehensive database and comparison platform for pseudogene annotation. Nucleic Acids Res (2006) 3.62
Classification of human genomic regions based on experimentally determined binding sites of more than 100 transcription-related factors. Genome Biol (2012) 3.61
Ubiquitous heterogeneity and asymmetry of the chromatin environment at regulatory elements. Genome Res (2012) 3.61
Genomic analysis of essentiality within protein networks. Trends Genet (2004) 3.52
Genomic analysis of the hierarchical structure of regulatory networks. Proc Natl Acad Sci U S A (2006) 3.51
Modeling ChIP sequencing in silico with applications. PLoS Comput Biol (2008) 3.48
GATA-1 binding sites mapped in the beta-globin locus by using mammalian chIp-chip analysis. Proc Natl Acad Sci U S A (2002) 3.41
Structured digital abstract makes text mining easy. Nature (2007) 3.38
Defining functional DNA elements in the human genome. Proc Natl Acad Sci U S A (2014) 3.35
Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome. Proc Natl Acad Sci U S A (2007) 3.35
Systematic analysis of transcribed loci in ENCODE regions using RACE sequencing reveals extensive transcription in the human genome. Genome Biol (2008) 3.34