Published in Science on April 13, 2007
The diploid genome sequence of an individual human. PLoS Biol (2007) 44.80
ABySS: a parallel assembler for short read sequence data. Genome Res (2009) 43.20
Ensembl 2009. Nucleic Acids Res (2008) 25.38
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
EnsemblCompara GeneTrees: Complete, duplication-aware phylogenetic trees in vertebrates. Genome Res (2008) 12.72
The Human Gene Mutation Database: 2008 update. Genome Med (2009) 11.72
The impact of retrotransposons on human genome evolution. Nat Rev Genet (2009) 8.08
A high-coverage genome sequence from an archaic Denisovan individual. Science (2012) 7.89
Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombination. Science (2009) 7.35
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet (2014) 6.69
28-way vertebrate alignment and conservation track in the UCSC Genome Browser. Genome Res (2007) 6.42
African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping. Annu Rev Genomics Hum Genet (2008) 6.06
A decade's perspective on DNA sequencing technology. Nature (2011) 5.61
Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol (2009) 5.45
Multi-platform next-generation sequencing of the domestic turkey (Meleagris gallopavo): genome assembly and analysis. PLoS Biol (2010) 5.39
Patterns of positive selection in six Mammalian genomes. PLoS Genet (2008) 4.69
Insights into hominid evolution from the gorilla genome sequence. Nature (2012) 4.12
Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species. Gigascience (2013) 4.11
Treatment of stroke with a PSD-95 inhibitor in the gyrencephalic primate brain. Nature (2012) 4.04
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 burst of segmental duplications in the genome of the African great ape ancestor. Nature (2009) 3.63
Decanalization and the origin of complex disease. Nat Rev Genet (2009) 3.12
From evolutionary genetics to human immunology: how selection shapes host defence genes. Nat Rev Genet (2009) 2.98
Evidence of abundant purifying selection in humans for recently acquired regulatory functions. Science (2012) 2.81
Neisseria meningitidis recruits factor H using protein mimicry of host carbohydrates. Nature (2009) 2.81
Null mutations in human and mouse orthologs frequently result in different phenotypes. Proc Natl Acad Sci U S A (2008) 2.60
Generation times in wild chimpanzees and gorillas suggest earlier divergence times in great ape and human evolution. Proc Natl Acad Sci U S A (2012) 2.54
Human and rhesus APOBEC3D, APOBEC3F, APOBEC3G, and APOBEC3H demonstrate a conserved capacity to restrict Vif-deficient HIV-1. J Virol (2011) 2.50
Natural selection on genes that underlie human disease susceptibility. Curr Biol (2008) 2.49
MVA.85A boosting of BCG and an attenuated, phoP deficient M. tuberculosis vaccine both show protective efficacy against tuberculosis in rhesus macaques. PLoS One (2009) 2.49
Population genetic analysis of shotgun assemblies of genomic sequences from multiple individuals. Genome Res (2008) 2.46
Transcriptional architecture of the primate neocortex. Neuron (2012) 2.42
Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques. Nat Biotechnol (2011) 2.37
The apolipoprotein L family of programmed cell death and immunity genes rapidly evolved in primates at discrete sites of host-pathogen interactions. Genome Res (2009) 2.35
The yak genome and adaptation to life at high altitude. Nat Genet (2012) 2.34
Large-scale cellular-resolution gene profiling in human neocortex reveals species-specific molecular signatures. Cell (2012) 2.29
Evolution of the aging brain transcriptome and synaptic regulation. PLoS One (2008) 2.23
Balancing selection maintains a form of ERAP2 that undergoes nonsense-mediated decay and affects antigen presentation. PLoS Genet (2010) 2.14
TRIMCyp expression in Old World primates Macaca nemestrina and Macaca fascicularis. Proc Natl Acad Sci U S A (2008) 2.09
Comparative genomics search for losses of long-established genes on the human lineage. PLoS Comput Biol (2007) 2.07
Evolutionary breakpoints in the gibbon suggest association between cytosine methylation and karyotype evolution. PLoS Genet (2009) 2.07
Disease modeling for Ebola and Marburg viruses. Dis Model Mech (2009) 2.07
Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes. Nature (2012) 2.06
Genome-wide inference of natural selection on human transcription factor binding sites. Nat Genet (2013) 2.03
Rates and fitness consequences of new mutations in humans. Genetics (2012) 2.01
Evolutionary processes acting on candidate cis-regulatory regions in humans inferred from patterns of polymorphism and divergence. PLoS Genet (2009) 1.97
Population size changes reshape genomic patterns of diversity. Evolution (2007) 1.95
Reliabilities of identifying positive selection by the branch-site and the site-prediction methods. Proc Natl Acad Sci U S A (2009) 1.94
Hotspots of biased nucleotide substitutions in human genes. PLoS Biol (2009) 1.89
Massive turnover of functional sequence in human and other mammalian genomes. Genome Res (2010) 1.89
The evolutionary conundrum of pathogen mimicry. Nat Rev Microbiol (2009) 1.87
Major histocompatibility complex genotyping with massively parallel pyrosequencing. Nat Med (2009) 1.86
Genomics, biogeography, and the diversification of placental mammals. Proc Natl Acad Sci U S A (2007) 1.86
Comparative analysis of Alu repeats in primate genomes. Genome Res (2009) 1.85
The artiodactyl APOBEC3 innate immune repertoire shows evidence for a multi-functional domain organization that existed in the ancestor of placental mammals. BMC Mol Biol (2008) 1.85
Bos taurus genome assembly. BMC Genomics (2009) 1.83
Adaptive evolution of young gene duplicates in mammals. Genome Res (2009) 1.82
Significant mobilization of both conventional and regulatory T cells with AMD3100. Blood (2011) 1.73
Biased clustered substitutions in the human genome: the footprints of male-driven biased gene conversion. Genome Res (2007) 1.72
Extensive copy-number variation of the human olfactory receptor gene family. Am J Hum Genet (2008) 1.71
The origins and impact of primate segmental duplications. Trends Genet (2009) 1.69
Monkeying around with HIV vaccines: using rhesus macaques to define 'gatekeepers' for clinical trials. Nat Rev Immunol (2009) 1.68
Explaining human uniqueness: genome interactions with environment, behaviour and culture. Nat Rev Genet (2008) 1.67
Breakpoint regions and homologous synteny blocks in chromosomes have different evolutionary histories. Genome Res (2009) 1.66
Genome assembly quality: assessment and improvement using the neutral indel model. Genome Res (2010) 1.64
Role of ABO secretor status in mucosal innate immunity and H. pylori infection. PLoS Pathog (2008) 1.64
Preexisting immunity and low expression in primates highlight translational challenges for liver-directed AAV8-mediated gene therapy. Mol Ther (2010) 1.63
Accelerated rate of gene gain and loss in primates. Genetics (2007) 1.62
Transposable elements as drivers of genomic and biological diversity in vertebrates. Chromosome Res (2008) 1.61
Correlates of substitution rate variation in mammalian protein-coding sequences. BMC Evol Biol (2008) 1.60
Discordant evolution of the adjacent antiretroviral genes TRIM22 and TRIM5 in mammals. PLoS Pathog (2007) 1.60
Alu recombination-mediated structural deletions in the chimpanzee genome. PLoS Genet (2007) 1.59
Estimates of positive Darwinian selection are inflated by errors in sequencing, annotation, and alignment. Genome Biol Evol (2009) 1.57
MicroRNA-driven developmental remodeling in the brain distinguishes humans from other primates. PLoS Biol (2011) 1.57
Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: current and developing technologies. Mutat Res (2008) 1.56
Molecular evolution of the antiretroviral TRIM5 gene. Immunogenetics (2009) 1.55
Analysis of chimpanzee history based on genome sequence alignments. PLoS Genet (2008) 1.55
Two-stepping through time: mammals and viruses. Trends Microbiol (2011) 1.54
Whole-genome sequencing of six Mauritian Cynomolgus macaques (Macaca fascicularis) reveals a genome-wide pattern of polymorphisms under extreme population bottleneck. Genome Biol Evol (2015) 1.53
Evidence of a paucity of genes that interact with the mitochondrion on the X in mammals. Genome Biol Evol (2012) 1.52
Estimating the phylogeny and divergence times of primates using a supermatrix approach. BMC Evol Biol (2009) 1.52
Plasmodium cynomolgi genome sequences provide insight into Plasmodium vivax and the monkey malaria clade. Nat Genet (2012) 1.49
Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee. Genome Res (2011) 1.47
Coevolution of retroelements and tandem zinc finger genes. Genome Res (2011) 1.46
Closing gaps in the human genome using sequencing by synthesis. Genome Biol (2009) 1.46
High-resolution definition of vaccine-elicited B cell responses against the HIV primary receptor binding site. Sci Transl Med (2012) 1.45
Pervasive positive selection on duplicated and nonduplicated vertebrate protein coding genes. Genome Res (2008) 1.45
Pancreatic islet amyloidosis, beta-cell apoptosis, and alpha-cell proliferation are determinants of islet remodeling in type-2 diabetic baboons. Proc Natl Acad Sci U S A (2009) 1.45
Exon-trapping mediated by the human retrotransposon SVA. Genome Res (2009) 1.44
Copy number variation of CCL3-like genes affects rate of progression to simian-AIDS in Rhesus Macaques (Macaca mulatta). PLoS Genet (2009) 1.43
Sequencing and comparative analysis of a conserved syntenic segment in the Solanaceae. Genetics (2008) 1.43
Gibbon genome and the fast karyotype evolution of small apes. Nature (2014) 1.43
A nonhuman primate model of lung regeneration: detergent-mediated decellularization and initial in vitro recellularization with mesenchymal stem cells. Tissue Eng Part A (2012) 1.39
Selection of internal reference genes for SYBR green qRT-PCR studies of rhesus monkey (Macaca mulatta) tissues. BMC Mol Biol (2008) 1.38
The common marmoset genome provides insight into primate biology and evolution. Nat Genet (2014) 1.38
Fructose-fed rhesus monkeys: a nonhuman primate model of insulin resistance, metabolic syndrome, and type 2 diabetes. Clin Transl Sci (2011) 1.37
Comparative RNA sequencing reveals substantial genetic variation in endangered primates. Genome Res (2011) 1.36
Sequencing papaya X and Yh chromosomes reveals molecular basis of incipient sex chromosome evolution. Proc Natl Acad Sci U S A (2012) 1.35
The human genome browser at UCSC. Genome Res (2002) 168.23
Velvet: algorithms for de novo short read assembly using de Bruijn graphs. Genome Res (2008) 151.16
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
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
The Bioperl toolkit: Perl modules for the life sciences. Genome Res (2002) 58.63
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
An integrated genomic analysis of human glioblastoma multiforme. Science (2008) 51.36
The Pfam protein families database. Nucleic Acids Res (2002) 51.34
The diploid genome sequence of an Asian individual. Nature (2008) 46.29
Environmental genome shotgun sequencing of the Sargasso Sea. Science (2004) 45.23
The diploid genome sequence of an individual human. PLoS Biol (2007) 44.80
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
ABySS: a parallel assembler for short read sequence data. Genome Res (2009) 43.20
Circos: an information aesthetic for comparative genomics. Genome Res (2009) 40.02
Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1. Cancer Cell (2010) 39.09
Patterns of somatic mutation in human cancer genomes. Nature (2007) 38.41
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature (2008) 38.13
Genome sequence of the human malaria parasite Plasmodium falciparum. Nature (2002) 37.89
Galaxy: a platform for interactive large-scale genome analysis. Genome Res (2005) 35.75
Human-mouse alignments with BLASTZ. Genome Res (2003) 35.49
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
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