Published in Nature on February 12, 2009
High-quality draft assemblies of mammalian genomes from massively parallel sequence data. Proc Natl Acad Sci U S A (2010) 22.97
Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet (2009) 11.73
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
Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol (2009) 5.45
Comparative and demographic analysis of orang-utan genomes. Nature (2011) 3.83
Widespread genomic signatures of natural selection in hominid evolution. PLoS Genet (2009) 3.68
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nat Genet (2010) 2.57
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. Cell (2012) 2.43
Low copy number of the salivary amylase gene predisposes to obesity. Nat Genet (2014) 2.00
Characterization of six human disease-associated inversion polymorphisms. Hum Mol Genet (2009) 2.00
The origins and impact of primate segmental duplications. Trends Genet (2009) 1.69
Alu repeat discovery and characterization within human genomes. Genome Res (2010) 1.62
Properties and rates of germline mutations in humans. Trends Genet (2013) 1.58
Detection and correction of false segmental duplications caused by genome mis-assembly. Genome Biol (2010) 1.54
Global diversity, population stratification, and selection of human copy-number variation. Science (2015) 1.48
Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee. Genome Res (2011) 1.47
Evolution of genetic and genomic features unique to the human lineage. Nat Rev Genet (2012) 1.44
Unified modeling of gene duplication, loss, and coalescence using a locus tree. Genome Res (2012) 1.44
The common marmoset genome provides insight into primate biology and evolution. Nat Genet (2014) 1.38
Copy number variation analysis in the great apes reveals species-specific patterns of structural variation. Genome Res (2011) 1.33
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
Evolution and diversity of copy number variation in the great ape lineage. Genome Res (2013) 1.29
Copy number variation, chromosome rearrangement, and their association with recombination during avian evolution. Genome Res (2010) 1.26
Comparative primate genomics: emerging patterns of genome content and dynamics. Nat Rev Genet (2014) 1.23
A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia. Hum Mutat (2011) 1.21
Trans genomic capture and sequencing of primate exomes reveals new targets of positive selection. Genome Res (2011) 1.20
The genetics of microdeletion and microduplication syndromes: an update. Annu Rev Genomics Hum Genet (2014) 1.16
The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism. Genome Res (2012) 1.14
Exploring the role of copy number variants in human adaptation. Trends Genet (2012) 1.14
DUF1220 domains, cognitive disease, and human brain evolution. Cold Spring Harb Symp Quant Biol (2009) 1.13
Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution. Proc Natl Acad Sci U S A (2010) 1.11
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability. Nat Genet (2014) 1.09
Gain, loss and divergence in primate zinc-finger genes: a rich resource for evolution of gene regulatory differences between species. PLoS One (2011) 1.08
Dynamics of DNA methylation in recent human and great ape evolution. PLoS Genet (2013) 1.07
Impact of genomic structural variation in Drosophila melanogaster based on population-scale sequencing. Genome Res (2012) 1.07
A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. PLoS One (2011) 1.05
Gene copy number variation throughout the Plasmodium falciparum genome. BMC Genomics (2009) 1.03
On the origins of Mendelian disease genes in man: the impact of gene duplication. Mol Biol Evol (2011) 1.01
Rapid diversification of five Oryza AA genomes associated with rice adaptation. Proc Natl Acad Sci U S A (2014) 1.01
The evolution of human segmental duplications and the core duplicon hypothesis. Cold Spring Harb Symp Quant Biol (2009) 1.01
Selection upon genome architecture: conservation of functional neighborhoods with changing genes. PLoS Comput Biol (2010) 0.97
The evolution and expression of the snaR family of small non-coding RNAs. Nucleic Acids Res (2010) 0.97
Human gene copy number variation and infectious disease. Hum Genet (2014) 0.97
Primate genome architecture influences structural variation mechanisms and functional consequences. Proc Natl Acad Sci U S A (2013) 0.97
Genomic features of the human dopamine transporter gene and its potential epigenetic States: implications for phenotypic diversity. PLoS One (2010) 0.96
Segmental duplications in the human genome reveal details of pseudogene formation. Nucleic Acids Res (2010) 0.95
Copy number variation in chemokine superfamily: the complex scene of CCL3L-CCL4L genes in health and disease. Clin Exp Immunol (2010) 0.95
Accelerating read mapping with FastHASH. BMC Genomics (2013) 0.94
Copy number variants (CNVs) in primate species using array-based comparative genomic hybridization. Methods (2009) 0.91
Noncoding sequences near duplicated genes evolve rapidly. Genome Biol Evol (2010) 0.88
The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2. Genome Res (2012) 0.87
Characterization of the past and current duplication activities in the human 22q11.2 region. BMC Genomics (2011) 0.87
A critical assessment of cross-species detection of gene duplicates using comparative genomic hybridization. BMC Genomics (2010) 0.86
Accelerated exon evolution within primate segmental duplications. Genome Biol (2013) 0.86
Evolutionary dynamism of the primate LRRC37 gene family. Genome Res (2012) 0.85
Signals of historical interlocus gene conversion in human segmental duplications. PLoS One (2013) 0.84
Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7. BMC Genomics (2014) 0.84
A mechanism of gene amplification driven by small DNA fragments. PLoS Genet (2012) 0.81
Probing the Association between Early Evolutionary Markers and Schizophrenia. PLoS One (2017) 0.80
Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analyses. BMC Evol Biol (2011) 0.79
In transition: primate genomics at a time of rapid change. ILAR J (2013) 0.79
High occurrence of functional new chimeric genes in survey of rice chromosome 3 short arm genome sequences. Genome Biol Evol (2013) 0.79
The heterochromatic chromosome caps in great apes impact telomere metabolism. Nucleic Acids Res (2013) 0.79
A Genome-Wide Landscape of Retrocopies in Primate Genomes. Genome Biol Evol (2015) 0.79
Human adaptation and evolution by segmental duplication. Curr Opin Genet Dev (2016) 0.78
Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene. Genome Biol Evol (2013) 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
Evolutionary patterns of recently emerged animal duplogs. Genome Biol Evol (2011) 0.78
Habit acquisition in the context of neuronal genomic and epigenomic mosaicism. Front Hum Neurosci (2014) 0.78
Hominoid fission of chromosome 14/15 and the role of segmental duplications. Genome Res (2013) 0.77
Interplay of interlocus gene conversion and crossover in segmental duplications under a neutral scenario. G3 (Bethesda) (2014) 0.77
Emergence and Evolution of Hominidae-Specific Coding and Noncoding Genomic Sequences. Genome Biol Evol (2016) 0.77
Genome architecture and its roles in human copy number variation. Genomics Inform (2014) 0.77
Molecular trajectories leading to the alternative fates of duplicate genes. PLoS One (2012) 0.77
Detecting long tandem duplications in genomic sequences. BMC Bioinformatics (2012) 0.76
The evolution and population diversity of human-specific segmental duplications. Nat Ecol Evol (2017) 0.76
Comparative genomics of human stem cell factor (SCF). Mol Biol Res Commun (2017) 0.75
The birth of a human-specific neural gene by incomplete duplication and gene fusion. Genome Biol (2017) 0.75
The evolution and consequences of snaR family transposition in primates. Mob Genet Elements (2011) 0.75
Shifted Hamming distance: a fast and accurate SIMD-friendly filter to accelerate alignment verification in read mapping. Bioinformatics (2015) 0.75
Genome-wide patterns of copy number variation in the Chinese yak genome. BMC Genomics (2016) 0.75
Darwin 200: The other strand. Nature (2009) 0.75
Gene duplication in an African cichlid adaptive radiation. BMC Genomics (2014) 0.75
Genome-wide patterns of genetic variation among silkworms. Mol Genet Genomics (2015) 0.75
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
The diploid genome sequence of an individual human. PLoS Biol (2007) 44.80
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Initial sequence of the chimpanzee genome and comparison with the human genome. Nature (2005) 25.67
Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31
Recent segmental duplications in the human genome. Science (2002) 21.30
Evolution at two levels in humans and chimpanzees. Science (1975) 21.07
Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature (2008) 20.31
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science (2005) 17.00
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution. Nat Genet (2007) 10.38
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet (2006) 10.36
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature (2006) 9.30
Evidence for higher rates of nucleotide substitution in rodents than in man. Proc Natl Acad Sci U S A (1985) 8.18
Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet (2007) 8.07
A genome-wide comparison of recent chimpanzee and human segmental duplications. Nature (2005) 5.51
The origin of man: a chromosomal pictorial legacy. Science (1982) 4.02
Hotspots for copy number variation in chimpanzees and humans. Proc Natl Acad Sci U S A (2006) 3.68
Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron (2006) 3.65
The molecular clock runs more slowly in man than in apes and monkeys. Nature (1987) 3.42
A genome-wide survey of structural variation between human and chimpanzee. Genome Res (2005) 2.61
Serial segmental duplications during primate evolution result in complex human genome architecture. Genome Res (2004) 1.78
Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies. Hum Mol Genet (2008) 1.73
The role of immunochemical differences in the phyletic development of human behavior. Hum Biol (1961) 1.69
Variable molecular clocks in hominoids. Proc Natl Acad Sci U S A (2006) 1.66
Genomic data support the hominoid slowdown and an Early Oligocene estimate for the hominoid-cercopithecoid divergence. Proc Natl Acad Sci U S A (2004) 1.62
DupMasker: a tool for annotating primate segmental duplications. Genome Res (2008) 1.16
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
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 obesity-associated gut microbiome with increased capacity for energy harvest. Nature (2006) 44.35
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
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
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
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
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
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
International network of cancer genome projects. Nature (2010) 20.35
Genome remodelling in a basal-like breast cancer metastasis and xenograft. Nature (2010) 19.68
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
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
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
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
Extending assembly of short DNA sequences to handle error. Bioinformatics (2007) 14.46
Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature (2012) 14.33
Integrated genomic characterization of endometrial carcinoma. Nature (2013) 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
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature (2003) 12.44
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet (2009) 11.73
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Apoptosis initiated when BH3 ligands engage multiple Bcl-2 homologs, not Bax or Bak. Science (2007) 10.60
Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution. Nat Genet (2007) 10.38
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet (2006) 10.36
The BH3 mimetic ABT-737 targets selective Bcl-2 proteins and efficiently induces apoptosis via Bak/Bax if Mcl-1 is neutralized. Cancer Cell (2006) 10.19
The mutation spectrum revealed by paired genome sequences from a lung cancer patient. Nature (2010) 10.04