Published in Nature on May 10, 2007
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res (2007) 19.07
Human genetic variation and its contribution to complex traits. Nat Rev Genet (2009) 12.11
Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet (2009) 7.64
Mobile elements create structural variation: analysis of a complete human genome. Genome Res (2009) 7.06
Common vs. rare allele hypotheses for complex diseases. Curr Opin Genet Dev (2009) 6.85
Statistical analysis strategies for association studies involving rare variants. Nat Rev Genet (2010) 6.79
Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes. Genome Res (2009) 6.42
Challenges and standards in integrating surveys of structural variation. Nat Genet (2007) 6.05
Characterization of missing human genome sequences and copy-number polymorphic insertions. Nat Methods (2010) 5.44
Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet (2008) 4.53
Public data archives for genomic structural variation. Nat Genet (2010) 3.92
Systems medicine: the future of medical genomics and healthcare. Genome Med (2009) 3.85
Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends Genet (2009) 3.25
A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell (2010) 3.22
Segmental copy number variation shapes tissue transcriptomes. Nat Genet (2009) 2.95
FusionSeq: a modular framework for finding gene fusions by analyzing paired-end RNA-sequencing data. Genome Biol (2010) 2.79
Pharmacogenomics and individualized medicine: translating science into practice. Clin Pharmacol Ther (2012) 2.48
Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies. PLoS Genet (2007) 2.32
Haplotype sorting using human fosmid clone end-sequence pairs. Genome Res (2008) 2.10
The functional impact of structural variation in humans. Trends Genet (2008) 2.03
Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays. Ann Appl Stat (2008) 1.75
Extensive copy-number variation of the human olfactory receptor gene family. Am J Hum Genet (2008) 1.71
Linkage disequilibrium in wild mice. PLoS Genet (2007) 1.70
Application of OMICS technologies in occupational and environmental health research; current status and projections. Occup Environ Med (2009) 1.67
Variance of gene expression identifies altered network constraints in neurological disease. PLoS Genet (2011) 1.53
A sequence-based survey of the complex structural organization of tumor genomes. Genome Biol (2008) 1.45
High-resolution identification of balanced and complex chromosomal rearrangements by 4C technology. Nat Methods (2009) 1.44
Modeling genetic inheritance of copy number variations. Nucleic Acids Res (2008) 1.39
The effect of algorithms on copy number variant detection. PLoS One (2010) 1.23
Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion. Genome Res (2008) 1.17
Sequence and structure signatures of cancer mutation hotspots in protein kinases. PLoS One (2009) 1.14
Human copy number polymorphic genes. Cytogenet Genome Res (2009) 1.14
Scanning the human genome at kilobase resolution. Genome Res (2008) 1.13
Optimal Sparse Segment Identification with Application in Copy Number Variation Analysis. J Am Stat Assoc (2012) 1.09
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. Eur J Hum Genet (2009) 1.07
A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. PLoS One (2011) 1.05
Phenotypes, genotypes and disease susceptibility associated with gene copy number variations: complement C4 CNVs in European American healthy subjects and those with systemic lupus erythematosus. Cytogenet Genome Res (2009) 1.03
Linkage disequilibrium between two high-frequency deletion polymorphisms: implications for association studies involving the glutathione-S transferase (GST) genes. PLoS Genet (2009) 1.01
Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus. Cytogenet Genome Res (2009) 0.98
Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes. BMC Genet (2008) 0.96
Massively parallel sequencing approaches for characterization of structural variation. Methods Mol Biol (2012) 0.96
Human genetics and genomics a decade after the release of the draft sequence of the human genome. Hum Genomics (2011) 0.95
Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus. BMC Genomics (2010) 0.95
Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism. PLoS One (2009) 0.92
Statistical aspects of discerning indel-type structural variation via DNA sequence alignment. BMC Genomics (2009) 0.91
Functional impacts of NRXN1 knockdown on neurodevelopment in stem cell models. PLoS One (2013) 0.90
MouseIndelDB: a database integrating genomic indel polymorphisms that distinguish mouse strains. Nucleic Acids Res (2009) 0.89
Pharmacogenetics in acute lymphoblastic leukemia. Semin Hematol (2009) 0.88
A model-based clustering method for genomic structural variant prediction and genotyping using paired-end sequencing data. PLoS One (2012) 0.87
Targeted isolation of cloned genomic regions by recombineering for haplotype phasing and isogenic targeting. Nucleic Acids Res (2011) 0.86
Genome-wide array-based copy number profiling in human placentas from unexplained stillbirths. Prenat Diagn (2011) 0.86
A sequence variant in human KALRN impairs protein function and coincides with reduced cortical thickness. Nat Commun (2014) 0.85
Human subtelomeric copy number variations. Cytogenet Genome Res (2009) 0.84
Bioinformatics in China: a personal perspective. PLoS Comput Biol (2008) 0.83
A comprehensive profile of DNA copy number variations in a Korean population: identification of copy number invariant regions among Koreans. Exp Mol Med (2009) 0.81
Systematic identification of balanced transposition polymorphisms in Saccharomyces cerevisiae. PLoS Genet (2009) 0.81
Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene. PLoS One (2013) 0.79
Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations. Front Genet (2013) 0.79
Recent advances in understanding the role of nutrition in human genome evolution. Adv Nutr (2011) 0.78
Evidence of convergent evolution in humans and macaques supports an adaptive role for copy number variation of the β-defensin-2 gene. Genome Biol Evol (2014) 0.78
Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array. Haematologica (2011) 0.77
Controlled somatic and germline copy number variation in the mouse model. Curr Genomics (2010) 0.76
Copy Number Variation of TLR-7 Gene and its Association with the Development of Systemic Lupus Erythematosus in Female Patients from Yucatan Mexico. Genet Epigenet (2014) 0.76
Genetics and the general physician: insights, applications and future challenges. QJM (2009) 0.76
Are we Genomic Mosaics? Variations of the Genome of Somatic Cells can Contribute to Diversify our Phenotypes. Curr Genomics (2010) 0.76
SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct. J Transl Med (2012) 0.75
Clinical implications of copy number variations in autoimmune disorders. Korean J Intern Med (2015) 0.75
Cancer genetic association studies in the genome-wide age. Per Med (2008) 0.75
Mouse models in bone marrow transplantation and adoptive cellular therapy. Semin Hematol (2013) 0.75
A genome-wide approach for detecting novel insertion-deletion variants of mid-range size. Nucleic Acids Res (2016) 0.75
Human genetic variation and Parkinson's disease. J Mov Disord (2010) 0.75
CNNdel: Calling Structural Variations on Low Coverage Data Based on Convolutional Neural Networks. Biomed Res Int (2017) 0.75
Lipid levels in HIV-positive men receiving anti-retroviral therapy are not associated with copy number variation of reverse cholesterol transport pathway genes. BMC Res Notes (2015) 0.75
Genome-wide patterns of genetic variation among silkworms. Mol Genet Genomics (2015) 0.75
Initial sequencing and analysis of the human genome. Nature (2001) 212.86
A haplotype map of the human genome. Nature (2005) 105.70
The sequence of the human genome. Science (2001) 101.55
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
Whole-genome re-sequencing. Curr Opin Genet Dev (2006) 35.24
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
Structural variation in the human genome. Nat Rev Genet (2006) 21.40
Whole-genome patterns of common DNA variation in three human populations. Science (2005) 21.22
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 vision for the future of genomics research. Nature (2003) 14.06
Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33
Genome architecture, rearrangements and genomic disorders. Trends Genet (2002) 12.26
An initial map of insertion and deletion (INDEL) variation in the human genome. Genome Res (2006) 11.60
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
Copy number variation: new insights in genome diversity. Genome Res (2006) 8.66
Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet (1998) 7.93
DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell (1991) 7.93
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet (2006) 7.70
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet (2005) 7.60
Genome assembly comparison identifies structural variants in the human genome. Nat Genet (2006) 6.93
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
Human diallelic insertion/deletion polymorphisms. Am J Hum Genet (2002) 4.44
Abundant gene conversion between arms of palindromes in human and ape Y chromosomes. Nature (2003) 4.31
Structural variation of the human genome. Annu Rev Genomics Hum Genet (2006) 4.25
Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes. Hum Mol Genet (2004) 3.73
High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nat Genet (2006) 3.46
Molecular definition of the extreme size polymorphism in apolipoprotein(a). Hum Mol Genet (1993) 2.70
Polymorphically duplicated genes: their relevance to phenotypic variation in humans. Ann Med (2003) 2.50
Transvection effects in Drosophila. Annu Rev Genet (2002) 2.18
Widening the spectrum of human genetic variation. Nat Genet (2006) 1.97
Duplications and defects in the CYP2A6 gene: identification, genotyping, and in vivo effects on smoking. Mol Pharmacol (2000) 1.82
The molecular basis of variation in human color vision. Clin Genet (2005) 1.77
Large differences in testosterone excretion in Korean and Swedish men are strongly associated with a UDP-glucuronosyl transferase 2B17 polymorphism. J Clin Endocrinol Metab (2005) 1.68
The DNA sequence and comparative analysis of human chromosome 5. Nature (2004) 1.62
Identification of frequent chromosome copy-number polymorphisms by use of high-resolution single-nucleotide-polymorphism arrays. Am J Hum Genet (2006) 1.60
Deletion polymorphism of UDP-glucuronosyltransferase 2B17 and risk of prostate cancer in African American and Caucasian men. Cancer Epidemiol Biomarkers Prev (2006) 1.45
Thalassemia and abnormal hemoglobin. Int J Hematol (2002) 1.04
Review: the molecular basis of the Rh blood group phenotypes. Immunohematology (2004) 0.93
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
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
An integrated map of genetic variation from 1,092 human genomes. Nature (2012) 59.82
A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet (2011) 59.36
Global variation in copy number in the human genome. Nature (2006) 57.50
PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet (2003) 53.59
Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies. Genetics (2003) 53.11
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (2007) 51.70
The structure of haplotype blocks in the human genome. Science (2002) 50.88
Detection of large-scale variation in the human genome. Nat Genet (2004) 49.18
Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer. Science (2005) 39.06
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
MET amplification leads to gefitinib resistance in lung cancer by activating ERBB3 signaling. Science (2007) 32.68
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
Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data. Nat Methods (2013) 31.15
Genetic structure of human populations. Science (2002) 30.91
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
A map of recent positive selection in the human genome. PLoS Biol (2006) 29.19
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
The variant call format and VCFtools. Bioinformatics (2011) 25.88
Efficiency and power in genetic association studies. Nat Genet (2005) 25.56
The NIH Human Microbiome Project. Genome Res (2009) 24.61
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
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
Database resources of the National Center for Biotechnology Information. Nucleic Acids Res (2005) 22.98
Database resources of the National Center for Biotechnology Information. Nucleic Acids Res (2007) 22.53
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Detecting recent positive selection in the human genome from haplotype structure. Nature (2002) 22.00
Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet (2003) 21.52
Database resources of the National Center for Biotechnology Information. Nucleic Acids Res (2008) 21.36
Recent segmental duplications in the human genome. Science (2002) 21.30
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet (2008) 20.66
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
The human disease network. Proc Natl Acad Sci U S A (2007) 19.58
Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet (2008) 19.55
Database resources of the National Center for Biotechnology Information: 2002 update. Nucleic Acids Res (2002) 19.40
Database resources of the National Center for Biotechnology Information. Nucleic Acids Res (2006) 18.85
Database resources of the National Center for Biotechnology Information. Nucleic Acids Res (2006) 18.84
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
A HapMap harvest of insights into the genetics of common disease. J Clin Invest (2008) 18.31
Database resources of the National Center for Biotechnology. Nucleic Acids Res (2003) 18.26
The NCBI dbGaP database of genotypes and phenotypes. Nat Genet (2007) 17.93
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
A high-resolution survey of deletion polymorphism in the human genome. Nat Genet (2005) 16.99
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Understanding mechanisms underlying human gene expression variation with RNA sequencing. Nature (2010) 16.86
Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell (2011) 16.72