Published in Nature on May 01, 2008
Accurate whole human genome sequencing using reversible terminator chemistry. Nature (2008) 90.20
Finding the missing heritability of complex diseases. Nature (2009) 67.95
The diploid genome sequence of an Asian individual. Nature (2008) 46.29
De novo assembly of human genomes with massively parallel short read sequencing. Genome Res (2009) 45.91
ABySS: a parallel assembler for short read sequence data. Genome Res (2009) 43.20
Sequencing technologies - the next generation. Nat Rev Genet (2009) 40.57
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. Nat Methods (2009) 18.41
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet (2008) 15.89
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
Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics (2009) 15.08
Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet (2010) 14.81
High-resolution mapping of copy-number alterations with massively parallel sequencing. Nat Methods (2008) 12.56
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
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
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
The UCSC Genome Browser Database: update 2009. Nucleic Acids Res (2008) 10.31
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
Variation in transcription factor binding among humans. Science (2010) 9.33
Mechanisms of change in gene copy number. Nat Rev Genet (2009) 9.01
Diversity of human copy number variation and multicopy genes. Science (2010) 8.97
The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group. Genome Res (2009) 7.87
Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet (2009) 7.64
Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res (2009) 7.42
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
Mobile elements create structural variation: analysis of a complete human genome. Genome Res (2009) 7.06
CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res (2011) 6.97
Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet (2009) 6.79
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes. Genome Res (2009) 6.42
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet (2009) 5.93
Constructing genomic maps of positive selection in humans: where do we go from here? Genome Res (2009) 5.88
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
Building the sequence map of the human pan-genome. Nat Biotechnol (2009) 5.53
Characterization of missing human genome sequences and copy-number polymorphic insertions. Nat Methods (2010) 5.44
CREST maps somatic structural variation in cancer genomes with base-pair resolution. Nat Methods (2011) 5.34
Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nat Biotechnol (2010) 5.32
Modernizing reference genome assemblies. PLoS Biol (2011) 5.23
Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library. Nat Biotechnol (2009) 5.13
AlleleSeq: analysis of allele-specific expression and binding in a network framework. Mol Syst Biol (2011) 4.71
Pebble and rock band: heuristic resolution of repeats and scaffolding in the velvet short-read de novo assembler. PLoS One (2009) 4.60
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
Copy number variation detection and genotyping from exome sequence data. Genome Res (2012) 4.44
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res (2009) 4.32
Mouse segmental duplication and copy number variation. Nat Genet (2008) 4.24
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
A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose. Blood (2008) 4.02
Maize inbreds exhibit high levels of copy number variation (CNV) and presence/absence variation (PAV) in genome content. PLoS Genet (2009) 3.88
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet (2009) 3.81
Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene. PLoS Genet (2009) 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
Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly. Nat Biotechnol (2012) 3.43
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol (2011) 3.25
A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell (2010) 3.22
MoDIL: detecting small indels from clone-end sequencing with mixtures of distributions. Nat Methods (2009) 3.15
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
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
Next-generation VariationHunter: combinatorial algorithms for transposon insertion discovery. Bioinformatics (2010) 2.90
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
Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. Hum Mol Genet (2008) 2.76
Global distribution of genomic diversity underscores rich complex history of continental human populations. Genome Res (2009) 2.76
Detecting copy number variation with mated short reads. Genome Res (2010) 2.75
Pervasive gene content variation and copy number variation in maize and its undomesticated progenitor. Genome Res (2010) 2.71
Complex human chromosomal and genomic rearrangements. Trends Genet (2009) 2.66
Dynamic interactions between transposable elements and their hosts. Nat Rev Genet (2011) 2.61
Genome-wide association studies in ADHD. Hum Genet (2009) 2.58
Landscape of next-generation sequencing technologies. Anal Chem (2011) 2.58
Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet (2010) 2.57
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nat Genet (2010) 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
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. Cell (2012) 2.43
LINE-1 elements in structural variation and disease. Annu Rev Genomics Hum Genet (2011) 2.42
Recent advances in the genetics of autoimmune disease. Annu Rev Immunol (2009) 2.41
Personal genome sequencing: current approaches and challenges. Genes Dev (2010) 2.38
Annotating non-coding regions of the genome. Nat Rev Genet (2010) 2.38
Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes. Genome Res (2010) 2.31
Genomic patterns of homozygosity in worldwide human populations. Am J Hum Genet (2012) 2.30
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res (2009) 2.29
Double-strand breaks associated with repetitive DNA can reshape the genome. Proc Natl Acad Sci U S A (2008) 2.28
Small insertions and deletions (INDELs) in human genomes. Hum Mol Genet (2010) 2.25
Detection and characterization of novel sequence insertions using paired-end next-generation sequencing. Bioinformatics (2010) 2.23
Studying copy number variations using a nanofluidic platform. Nucleic Acids Res (2008) 2.23
A 15q13.3 microdeletion segregating with autism. Eur J Hum Genet (2008) 2.12
A haplotype map of the human genome. Nature (2005) 105.70
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
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
SSAHA: a fast search method for large DNA databases. Genome Res (2001) 48.64
The diploid genome sequence of an individual human. PLoS Biol (2007) 44.80
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature (2001) 42.18
Large-scale copy number polymorphism in the human genome. Science (2004) 34.64
Paired-end mapping reveals extensive structural variation in the human genome. Science (2007) 30.46
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science (2005) 17.00
A high-resolution survey of deletion polymorphism in the human genome. Nat Genet (2005) 16.99
Common deletion polymorphisms in the human genome. Nat Genet (2006) 15.66
A common inversion under selection in Europeans. Nat Genet (2005) 13.66
Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet (2006) 10.36
Common deletions and SNPs are in linkage disequilibrium in the human genome. Nat Genet (2005) 9.61
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature (2006) 9.30
A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet (2006) 8.61
Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet (2007) 8.07
End-sequence profiling: sequence-based analysis of aberrant genomes. Proc Natl Acad Sci U S A (2003) 7.70
Genome assembly comparison identifies structural variants in the human genome. Nat Genet (2006) 6.93
Whole-genome shotgun assembly and comparison of human genome assemblies. Proc Natl Acad Sci U S A (2004) 6.08
Challenges and standards in integrating surveys of structural variation. Nat Genet (2007) 6.05
A genome-wide comparison of recent chimpanzee and human segmental duplications. Nature (2005) 5.51
A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am J Hum Genet (2006) 5.10
Completing the map of human genetic variation. Nature (2007) 4.38
Closing gaps in the human genome with fosmid resources generated from multiple individuals. Nat Genet (2007) 4.30
Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases. Hum Mol Genet (2007) 4.07
Mutational and selective effects on copy-number variants in the human genome. Nat Genet (2007) 3.82
Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54
Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats. Nat Genet (1997) 3.30
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet (2002) 3.09
Inverted repeat structure of the human genome: the X-chromosome contains a preponderance of large, highly homologous inverted repeats that contain testes genes. Genome Res (2004) 3.09
Molecular definition of the extreme size polymorphism in apolipoprotein(a). Hum Mol Genet (1993) 2.70
Multiple-complete-digest restriction fragment mapping: generating sequence-ready maps for large-scale DNA sequencing. Proc Natl Acad Sci U S A (1997) 2.36
DNA sequence and analysis of human chromosome 8. Nature (2006) 1.91
Assembly of high-resolution restriction maps based on multiple complete digests of a redundant set of overlapping clones. Genomics (1996) 1.72
Short mucin 6 alleles are associated with H pylori infection. World J Gastroenterol (2006) 1.67
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
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
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res (2005) 44.08
Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1. Cancer Cell (2010) 39.09
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature (2008) 38.13
The genomic landscapes of human breast and colorectal cancers. Science (2007) 38.12
Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Science (2008) 36.02
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med (2009) 33.09
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
Whole-genome sequencing and variant discovery in C. elegans. Nat Methods (2008) 31.92
Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data. Nat Methods (2013) 31.15
Somatic mutations affect key pathways in lung adenocarcinoma. Nature (2008) 30.02
Comprehensive mapping of long-range interactions reveals folding principles of the human genome. Science (2009) 29.83
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Genome-wide atlas of gene expression in the adult mouse brain. Nature (2006) 28.02
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature (2005) 23.04
LAGAN and Multi-LAGAN: efficient tools for large-scale multiple alignment of genomic DNA. Genome Res (2003) 23.03
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet (2003) 21.52
Recent segmental duplications in the human genome. Science (2002) 21.30
A draft sequence of the rice genome (Oryza sativa L. ssp. japonica). Science (2002) 21.26
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet (2008) 20.73
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
International network of cancer genome projects. Nature (2010) 20.35
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Genome remodelling in a basal-like breast cancer metastasis and xenograft. Nature (2010) 19.68
Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet (2008) 19.55
The B73 maize genome: complexity, diversity, and dynamics. Science (2009) 18.73
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. Nat Methods (2009) 18.41
Evolution of genes and genomes on the Drosophila phylogeny. Nature (2007) 18.01
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12
The accessible chromatin landscape of the human genome. Nature (2012) 16.86
Characterizing the cancer genome in lung adenocarcinoma. Nature (2007) 16.48
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Identification of a CpG island methylator phenotype that defines a distinct subgroup of glioma. Cancer Cell (2010) 16.12
VarScan: variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics (2009) 16.04
VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res (2012) 15.90
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet (2008) 15.89
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
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
Genes that act downstream of DAF-16 to influence the lifespan of Caenorhabditis elegans. Nature (2003) 14.49
Systematic localization of common disease-associated variation in regulatory DNA. Science (2012) 14.47
Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature (2012) 14.33
Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29
DNMT3A mutations in acute myeloid leukemia. N Engl J Med (2010) 14.07
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
Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33
The genome sequence of Caenorhabditis briggsae: a platform for comparative genomics. PLoS Biol (2003) 13.32
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55