Published in Nature on February 03, 2011
An integrated map of genetic variation from 1,092 human genomes. Nature (2012) 59.82
Ensembl 2012. Nucleic Acids Res (2011) 14.55
Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell (2012) 12.32
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
Genetic studies of body mass index yield new insights for obesity biology. Nature (2015) 8.27
Genome structural variation discovery and genotyping. Nat Rev Genet (2011) 7.34
CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res (2011) 6.97
Discovery and genotyping of genome structural polymorphism by sequencing on a population scale. Nat Genet (2011) 6.67
Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations. Cell (2012) 6.07
De novo assembly and genotyping of variants using colored de Bruijn graphs. Nat Genet (2012) 5.61
CREST maps somatic structural variation in cancer genomes with base-pair resolution. Nat Methods (2011) 5.34
Ancient admixture in human history. Genetics (2012) 4.99
CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell (2012) 4.81
DELLY: structural variant discovery by integrated paired-end and split-read analysis. Bioinformatics (2012) 4.79
AlleleSeq: analysis of allele-specific expression and binding in a network framework. Mol Syst Biol (2011) 4.71
Comparison of next-generation sequencing systems. J Biomed Biotechnol (2012) 4.56
Detection of chromosomal alterations in the circulation of cancer patients with whole-genome sequencing. Sci Transl Med (2012) 3.92
Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Med (2013) 3.90
A survey of tools for variant analysis of next-generation genome sequencing data. Brief Bioinform (2013) 3.60
Active human retrotransposons: variation and disease. Curr Opin Genet Dev (2012) 3.60
Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am J Hum Genet (2012) 3.50
Sequence-based characterization of structural variation in the mouse genome. Nature (2011) 3.48
An integrated map of structural variation in 2,504 human genomes. Nature (2015) 3.30
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol (2011) 3.25
A comprehensive map of mobile element insertion polymorphisms in humans. PLoS Genet (2011) 3.14
Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells. Nature (2012) 3.09
Natural genetic variation caused by small insertions and deletions in the human genome. Genome Res (2011) 3.00
Integrative annotation of variants from 1092 humans: application to cancer genomics. Science (2013) 2.98
Resolving the complexity of the human genome using single-molecule sequencing. Nature (2014) 2.96
DbVar and DGVa: public archives for genomic structural variation. Nucleic Acids Res (2012) 2.81
Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. Proc Natl Acad Sci U S A (2011) 2.72
Mechanisms for recurrent and complex human genomic rearrangements. Curr Opin Genet Dev (2012) 2.67
Dynamic interactions between transposable elements and their hosts. Nat Rev Genet (2011) 2.61
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nat Genet (2012) 2.45
Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms. Genome Res (2013) 2.43
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Sci Transl Med (2015) 2.43
LINE-1 elements in structural variation and disease. Annu Rev Genomics Hum Genet (2011) 2.42
Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines. Genome Res (2014) 2.35
Differential relationship of DNA replication timing to different forms of human mutation and variation. Am J Hum Genet (2012) 2.33
Efficiency and power as a function of sequence coverage, SNP array density, and imputation. PLoS Comput Biol (2012) 2.29
Detection of structural variants and indels within exome data. Nat Methods (2011) 2.27
LUMPY: a probabilistic framework for structural variant discovery. Genome Biol (2014) 2.17
Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis. Arthritis Rheum (2013) 2.17
Current status of genome-wide association studies in cancer. Hum Genet (2011) 2.14
Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives. BMC Bioinformatics (2013) 2.07
Diverse mechanisms of somatic structural variations in human cancer genomes. Cell (2013) 2.00
Molecular genetic studies of complex phenotypes. Transl Res (2011) 1.95
Assembly and diploid architecture of an individual human genome via single-molecule technologies. Nat Methods (2015) 1.83
Somatic rearrangements across cancer reveal classes of samples with distinct patterns of DNA breakage and rearrangement-induced hypermutability. Genome Res (2012) 1.82
Alu elements: know the SINEs. Genome Biol (2011) 1.81
Large multiallelic copy number variations in humans. Nat Genet (2015) 1.79
AGE: defining breakpoints of genomic structural variants at single-nucleotide resolution, through optimal alignments with gap excision. Bioinformatics (2011) 1.75
Direct mutation analysis by high-throughput sequencing: from germline to low-abundant, somatic variants. Mutat Res (2011) 1.75
MetAMOS: a modular and open source metagenomic assembly and analysis pipeline. Genome Biol (2013) 1.74
Detecting and annotating genetic variations using the HugeSeq pipeline. Nat Biotechnol (2012) 1.72
Copy number variation of individual cattle genomes using next-generation sequencing. Genome Res (2012) 1.62
Properties and rates of germline mutations in humans. Trends Genet (2013) 1.58
An integrative probabilistic model for identification of structural variation in sequencing data. Genome Biol (2012) 1.56
Extensive genetic variation in somatic human tissues. Proc Natl Acad Sci U S A (2012) 1.56
Genome sequencing of mouse induced pluripotent stem cells reveals retroelement stability and infrequent DNA rearrangement during reprogramming. Cell Stem Cell (2011) 1.54
On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. Hum Mutat (2011) 1.53
Exome sequencing and complex disease: practical aspects of rare variant association studies. Hum Mol Genet (2012) 1.52
Global diversity, population stratification, and selection of human copy-number variation. Science (2015) 1.48
Characterizing polymorphic inversions in human genomes by single-cell sequencing. Genome Res (2016) 1.45
Analysis of genomic variation in non-coding elements using population-scale sequencing data from the 1000 Genomes Project. Nucleic Acids Res (2011) 1.43
Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions. Genome Res (2011) 1.42
Structural haplotypes and recent evolution of the human 17q21.31 region. Nat Genet (2012) 1.41
Molecular prescreening to select patient population in early clinical trials. Nat Rev Clin Oncol (2012) 1.40
Detection and validation of structural variations in bovine whole-genome sequence data. Genet Sel Evol (2017) 1.39
Simultaneous structural variation discovery among multiple paired-end sequenced genomes. Genome Res (2011) 1.39
Genetic and epigenetic stability of human pluripotent stem cells. Nat Rev Genet (2012) 1.38
Inferring the global structure of chromosomes from structural variations. BMC Genomics (2015) 1.37
Rapid detection of structural variation in a human genome using nanochannel-based genome mapping technology. Gigascience (2014) 1.36
Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med (2012) 1.33
DBTSS: DataBase of Transcriptional Start Sites progress report in 2012. Nucleic Acids Res (2011) 1.33
Genomic variation and its impact on gene expression in Drosophila melanogaster. PLoS Genet (2012) 1.31
Strategic approaches to unraveling genetic causes of cardiovascular diseases. Circ Res (2011) 1.31
inGAP-sv: a novel scheme to identify and visualize structural variation from paired end mapping data. Nucleic Acids Res (2011) 1.31
BreakFusion: targeted assembly-based identification of gene fusions in whole transcriptome paired-end sequencing data. Bioinformatics (2012) 1.31
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet (2013) 1.30
Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation. Am J Hum Genet (2013) 1.29
Evolutionary dynamics of copy number variation in pig genomes in the context of adaptation and domestication. BMC Genomics (2013) 1.28
Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics (2015) 1.26
Characterizing complex structural variation in germline and somatic genomes. Trends Genet (2011) 1.25
Haplotyping germline and cancer genomes with high-throughput linked-read sequencing. Nat Biotechnol (2016) 1.25
The fine-scale architecture of structural variants in 17 mouse genomes. Genome Biol (2012) 1.24
Genetic variation and the de novo assembly of human genomes. Nat Rev Genet (2015) 1.24
Replication stress and mechanisms of CNV formation. Curr Opin Genet Dev (2012) 1.23
Whole-genome sequencing of Oryza brachyantha reveals mechanisms underlying Oryza genome evolution. Nat Commun (2013) 1.22
Using ERDS to infer copy-number variants in high-coverage genomes. Am J Hum Genet (2012) 1.22
New gene evolution: little did we know. Annu Rev Genet (2013) 1.22
Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms. Nat Commun (2015) 1.21
TIGRA: a targeted iterative graph routing assembler for breakpoint assembly. Genome Res (2013) 1.21
Epi4K: gene discovery in 4,000 genomes. Epilepsia (2012) 1.21
Retrotransposition of gene transcripts leads to structural variation in mammalian genomes. Genome Biol (2013) 1.20
Copy number polymorphism in plant genomes. Theor Appl Genet (2013) 1.20
Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms. PLoS One (2011) 1.18
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. Am J Hum Genet (2015) 1.17
Hydroxyurea induces de novo copy number variants in human cells. Proc Natl Acad Sci U S A (2011) 1.17
Detection of Genomic Structural Variants from Next-Generation Sequencing Data. Front Bioeng Biotechnol (2015) 1.17
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
Detection of large-scale variation in the human genome. Nat Genet (2004) 49.18
The diploid genome sequence of an individual human. PLoS Biol (2007) 44.80
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet (2008) 43.63
ABySS: a parallel assembler for short read sequence data. Genome Res (2009) 43.20
Large-scale copy number polymorphism in the human genome. Science (2004) 34.64
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
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
Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Recent segmental duplications in the human genome. Science (2002) 21.30
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet (2008) 19.55
BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. Nat Methods (2009) 18.41
The sequence and de novo assembly of the giant panda genome. Nature (2009) 15.76
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
GENCODE: producing a reference annotation for ENCODE. Genome Biol (2006) 15.08
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
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33
High-resolution mapping of copy-number alterations with massively parallel sequencing. Nat Methods (2008) 12.56
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet (2009) 11.73
An initial map of insertion and deletion (INDEL) variation in the human genome. Genome Res (2006) 11.60
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell (2007) 9.81
Common deletions and SNPs are in linkage disequilibrium in the human genome. Nat Genet (2005) 9.61
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet (2008) 9.52
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
Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet (1998) 7.93
Structural variation in the human genome and its role in disease. Annu Rev Med (2010) 7.85
Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res (2009) 7.42
Computational methods for discovering structural variation with next-generation sequencing. Nat Methods (2009) 7.20
Discovery and genotyping of genome structural polymorphism by sequencing on a population scale. Nat Genet (2011) 6.67
Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes. Genome Res (2009) 6.42
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library. Nat Biotechnol (2009) 5.13
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat Genet (2010) 3.52
A comprehensive map of mobile element insertion polymorphisms in humans. PLoS Genet (2011) 3.14
A robust framework for detecting structural variations in a genome. Bioinformatics (2008) 3.03
Towards a comprehensive structural variation map of an individual human genome. Genome Biol (2010) 2.79
Detection and characterization of novel sequence insertions using paired-end next-generation sequencing. Bioinformatics (2010) 2.23
Human olfaction: from genomic variation to phenotypic diversity. Trends Genet (2009) 1.66
Accurate whole human genome sequencing using reversible terminator chemistry. Nature (2008) 90.20
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
SOAP: short oligonucleotide alignment program. Bioinformatics (2008) 68.13
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
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
A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet (2007) 52.68
Detection of large-scale variation in the human genome. Nat Genet (2004) 49.18
The transcriptional landscape of the yeast genome defined by RNA sequencing. Science (2008) 48.99
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
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
A human gut microbial gene catalogue established by metagenomic sequencing. Nature (2010) 43.63
A draft sequence of the rice genome (Oryza sativa L. ssp. indica). Science (2002) 42.78
SOAP2: an improved ultrafast tool for short read alignment. Bioinformatics (2009) 39.47
Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1. Cancer Cell (2010) 39.09
Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer. Science (2005) 39.06
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature (2008) 38.13
Functional profiling of the Saccharomyces cerevisiae genome. Nature (2002) 36.10
Large-scale copy number polymorphism in the human genome. Science (2004) 34.64
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
MET amplification leads to gefitinib resistance in lung cancer by activating ERBB3 signaling. Science (2007) 32.68
Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome. Nat Genet (2007) 32.41
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
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
Stem cell transcriptome profiling via massive-scale mRNA sequencing. Nat Methods (2008) 31.04
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
Somatic mutations affect key pathways in lung adenocarcinoma. Nature (2008) 30.02
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
A fine-scale map of recombination rates and hotspots across the human genome. Science (2005) 26.82
The variant call format and VCFtools. Bioinformatics (2011) 25.88
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
Enterotypes of the human gut microbiome. Nature (2011) 24.36
Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31
A comprehensive catalogue of somatic mutations from a human cancer genome. Nature (2009) 24.27
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
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Recent segmental duplications in the human genome. Science (2002) 21.30
SOAPdenovo2: an empirically improved memory-efficient short-read de novo assembler. Gigascience (2012) 20.89
An integrated semiconductor device enabling non-optical genome sequencing. Nature (2011) 20.85
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Characterization of microRNAs in serum: a novel class of biomarkers for diagnosis of cancer and other diseases. Cell Res (2008) 20.59
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A (2002) 20.48
International network of cancer genome projects. Nature (2010) 20.35
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med (2013) 19.87
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
A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature (2009) 18.39
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