Published in Science on September 27, 2007
Accurate whole human genome sequencing using reversible terminator chemistry. Nature (2008) 90.20
RNA-seq: an assessment of technical reproducibility and comparison with gene expression arrays. Genome Res (2008) 62.07
The diploid genome sequence of an Asian individual. Nature (2008) 46.29
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet (2008) 43.63
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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
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Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res (2009) 15.15
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Human genetic variation and its contribution to complex traits. Nat Rev Genet (2009) 12.11
Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet (2009) 11.73
PeakSeq enables systematic scoring of ChIP-seq experiments relative to controls. Nat Biotechnol (2009) 11.28
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Recurrent gene fusions in prostate cancer. Nat Rev Cancer (2008) 6.08
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Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations. Cell (2012) 6.07
African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping. Annu Rev Genomics Hum Genet (2008) 6.06
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Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet (2009) 5.93
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A decade's perspective on DNA sequencing technology. Nature (2011) 5.61
De novo assembly and genotyping of variants using colored de Bruijn graphs. Nat Genet (2012) 5.61
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet (2008) 5.53
Natural mutagenesis of human genomes by endogenous retrotransposons. Cell (2010) 5.50
Characterization of missing human genome sequences and copy-number polymorphic insertions. Nat Methods (2010) 5.44
Multi-platform next-generation sequencing of the domestic turkey (Meleagris gallopavo): genome assembly and analysis. PLoS Biol (2010) 5.39
CREST maps somatic structural variation in cancer genomes with base-pair resolution. Nat Methods (2011) 5.34
Bioinformatics challenges of new sequencing technology. Trends Genet (2008) 5.34
Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nat Biotechnol (2010) 5.32
Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library. Nat Biotechnol (2009) 5.13
The fine-scale and complex architecture of human copy-number variation. Am J Hum Genet (2008) 5.08
Probabilistic base calling of Solexa sequencing data. BMC Bioinformatics (2008) 5.00
Resequencing 50 accessions of cultivated and wild rice yields markers for identifying agronomically important genes. Nat Biotechnol (2011) 4.84
DELLY: structural variant discovery by integrated paired-end and split-read analysis. Bioinformatics (2012) 4.79
The Arabidopsis lyrata genome sequence and the basis of rapid genome size change. Nat Genet (2011) 4.65
LINE-1 retrotransposition activity in human genomes. Cell (2010) 4.60
Mechanisms for human genomic rearrangements. Pathogenetics (2008) 4.54
Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet (2008) 4.53
Next-generation DNA sequencing of paired-end tags (PET) for transcriptome and genome analyses. Genome Res (2009) 4.47
Translating insights from the cancer genome into clinical practice. Nature (2008) 4.37
Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome. Genome Res (2010) 4.22
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
The 1001 genomes project for Arabidopsis thaliana. Genome Biol (2009) 4.10
A sequence-level map of chromosomal breakpoints in the MCF-7 breast cancer cell line yields insights into the evolution of a cancer genome. Genome Res (2008) 4.06
The genomic and transcriptomic landscape of a HeLa cell line. G3 (Bethesda) (2013) 3.82
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet (2009) 3.81
Mobile interspersed repeats are major structural variants in the human genome. Cell (2010) 3.60
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat Genet (2010) 3.52
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat Genet (2010) 3.49
An integrated map of structural variation in 2,504 human genomes. Nature (2015) 3.30
Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends Genet (2009) 3.25
ChIA-PET tool for comprehensive chromatin interaction analysis with paired-end tag sequencing. Genome Biol (2010) 3.24
A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell (2010) 3.22
A comprehensive map of mobile element insertion polymorphisms in humans. PLoS Genet (2011) 3.14
Integrated study of copy number states and genotype calls using high-density SNP arrays. Nucleic Acids Res (2009) 3.09
De novo rates and selection of large copy number variation. Genome Res (2010) 3.08
RNA-seq: from technology to biology. Cell Mol Life Sci (2009) 3.03
A robust framework for detecting structural variations in a genome. Bioinformatics (2008) 3.03
Massively parallel sequencing: the next big thing in genetic medicine. Am J Hum Genet (2009) 3.01
Natural genetic variation caused by small insertions and deletions in the human genome. Genome Res (2011) 3.00
Segmental copy number variation shapes tissue transcriptomes. Nat Genet (2009) 2.95
Genotype to phenotype: a complex problem. Science (2010) 2.92
Next-generation VariationHunter: combinatorial algorithms for transposon insertion discovery. Bioinformatics (2010) 2.90
Targeted chromosomal duplications and inversions in the human genome using zinc finger nucleases. Genome Res (2011) 2.85
FusionSeq: a modular framework for finding gene fusions by analyzing paired-end RNA-sequencing data. Genome Biol (2010) 2.79
A geometric approach for classification and comparison of structural variants. Bioinformatics (2009) 2.79
Towards a comprehensive structural variation map of an individual human genome. Genome Biol (2010) 2.79
Detecting copy number variation with mated short reads. Genome Res (2010) 2.75
Mapping translocation breakpoints by next-generation sequencing. Genome Res (2008) 2.73
Copy number variation and evolution in humans and chimpanzees. Genome Res (2008) 2.69
Reference-guided assembly of four diverse Arabidopsis thaliana genomes. Proc Natl Acad Sci U S A (2011) 2.67
Genome sequence of the recombinant protein production host Pichia pastoris. Nat Biotechnol (2009) 2.67
Complex human chromosomal and genomic rearrangements. Trends Genet (2009) 2.66
SVDetect: a tool to identify genomic structural variations from paired-end and mate-pair sequencing data. Bioinformatics (2010) 2.63
Dynamic interactions between transposable elements and their hosts. Nat Rev Genet (2011) 2.61
Adaptive evolution of UGT2B17 copy-number variation. Am J Hum Genet (2008) 2.58
Revisiting Mendelian disorders through exome sequencing. Hum Genet (2011) 2.57
High-resolution human genome structure by single-molecule analysis. Proc Natl Acad Sci U S A (2010) 2.47
Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly. Nat Biotechnol (2011) 2.45
LINE-1 elements in structural variation and disease. Annu Rev Genomics Hum Genet (2011) 2.42
Evaluation of paired-end sequencing strategies for detection of genome rearrangements in cancer. PLoS Comput Biol (2008) 2.40
Genome sequencing in microfabricated high-density picolitre reactors. Nature (2005) 150.21
A haplotype map of the human genome. Nature (2005) 105.70
Global variation in copy number in the human genome. Nature (2006) 57.50
Detection of large-scale variation in the human genome. Nat Genet (2004) 49.18
Large-scale copy number polymorphism in the human genome. Science (2004) 34.64
Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31
Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science (2007) 23.38
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science (2005) 17.00
A common inversion under selection in Europeans. Nat Genet (2005) 13.66
Copy number variation: new insights in genome diversity. Genome Res (2006) 8.66
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet (2005) 7.60
Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH. Genes Chromosomes Cancer (2005) 7.53
Genome assembly comparison identifies structural variants in the human genome. Nat Genet (2006) 6.93
FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nat Genet (2007) 5.93
An Alu transposition model for the origin and expansion of human segmental duplications. Am J Hum Genet (2003) 5.33
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
Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication. Nature (2005) 4.30
Which transposable elements are active in the human genome? Trends Genet (2007) 4.19
Resolving the resolution of array CGH. Genomics (2007) 3.66
Non-B DNA conformations, genomic rearrangements, and human disease. J Biol Chem (2004) 3.59
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
Genomewide screening reveals high levels of insertional polymorphism in the human endogenous retrovirus family HERV-K(HML2): implications for present-day activity. J Virol (2005) 3.26
Genome sequencing in microfabricated high-density picolitre reactors. Nature (2005) 150.21
Accurate whole human genome sequencing using reversible terminator chemistry. Nature (2008) 90.20
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
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
Global variation in copy number in the human genome. Nature (2006) 57.50
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
A core gut microbiome in obese and lean twins. Nature (2008) 52.30
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
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet (2008) 43.63
Functional profiling of the Saccharomyces cerevisiae genome. Nature (2002) 36.10
Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science (2007) 23.38
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
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
A high-resolution survey of deletion polymorphism in the human genome. Nat Genet (2005) 16.99
Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell (2011) 16.72
The genetic landscape of a cell. Science (2010) 16.52
Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science (2009) 16.35
The GENCODE v7 catalog of human long noncoding RNAs: analysis of their gene structure, evolution, and expression. Genome Res (2012) 15.41
The genomic complexity of primary human prostate cancer. Nature (2011) 14.06
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
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature (2012) 13.61
Comprehensive human genome amplification using multiple displacement amplification. Proc Natl Acad Sci U S A (2002) 13.58
A DNA damage checkpoint response in telomere-initiated senescence. Nature (2003) 12.55
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
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
Prepublication data sharing. Nature (2009) 12.24
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
A metagenomic survey of microbes in honey bee colony collapse disorder. Science (2007) 11.72
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
Signatures of mutation and selection in the cancer genome. Nature (2010) 9.75
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
Cerebral organoids model human brain development and microcephaly. Nature (2013) 9.07
Complete Khoisan and Bantu genomes from southern Africa. Nature (2010) 9.06
Variation in genome-wide mutation rates within and between human families. Nat Genet (2011) 8.84
Copy number variation: new insights in genome diversity. Genome Res (2006) 8.66
Diet and the evolution of human amylase gene copy number variation. Nat Genet (2007) 8.64
The zebrafish reference genome sequence and its relationship to the human genome. Nature (2013) 8.52
Extensive promoter-centered chromatin interactions provide a topological basis for transcription regulation. Cell (2012) 8.41
Detection of circulating tumor DNA in early- and late-stage human malignancies. Sci Transl Med (2014) 8.36
The genome of the domesticated apple (Malus × domestica Borkh.). Nat Genet (2010) 8.07
Subcellular localization of the yeast proteome. Genes Dev (2002) 7.93
A new arenavirus in a cluster of fatal transplant-associated diseases. N Engl J Med (2008) 7.73
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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet (2009) 7.61
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
Organismal, genetic, and transcriptional variation in the deeply sequenced gut microbiomes of identical twins. Proc Natl Acad Sci U S A (2010) 7.09
A complete Neandertal mitochondrial genome sequence determined by high-throughput sequencing. Cell (2008) 6.98
The DNA sequence of the human X chromosome. Nature (2005) 6.97
CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res (2011) 6.97
Sensitive mutation detection in heterogeneous cancer specimens by massively parallel picoliter reactor sequencing. Nat Med (2006) 6.96
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