Published in Genome Res on March 01, 2003
The impact of retrotransposons on human genome evolution. Nat Rev Genet (2009) 8.08
Mobile elements create structural variation: analysis of a complete human genome. Genome Res (2009) 7.06
An Alu transposition model for the origin and expansion of human segmental duplications. Am J Hum Genet (2003) 5.33
DNA transposons and the evolution of eukaryotic genomes. Annu Rev Genet (2007) 4.99
Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication. Nature (2005) 4.30
Comparative and demographic analysis of orang-utan genomes. Nature (2011) 3.83
Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. Am J Hum Genet (2003) 3.27
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am J Hum Genet (2006) 3.18
Human genomic deletions mediated by recombination between Alu elements. Am J Hum Genet (2006) 3.15
Emergence of young human genes after a burst of retroposition in primates. PLoS Biol (2005) 3.08
A genome-wide survey of structural variation between human and chimpanzee. Genome Res (2005) 2.61
Molecular evolution and tempo of amplification of human LINE-1 retrotransposons since the origin of primates. Genome Res (2005) 2.46
Comparative analysis of Alu repeats in primate genomes. Genome Res (2009) 1.85
Differential alu mobilization and polymorphism among the human and chimpanzee lineages. Genome Res (2004) 1.77
A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications. Genome Res (2006) 1.69
Genomic deletions and precise removal of transposable elements mediated by short identical DNA segments in primates. Genome Res (2005) 1.68
Alu recombination-mediated structural deletions in the chimpanzee genome. PLoS Genet (2007) 1.59
Evolutionary expansion and divergence in the ZNF91 subfamily of primate-specific zinc finger genes. Genome Res (2006) 1.54
Population bottlenecks as a potential major shaping force of human genome architecture. PLoS Genet (2007) 1.47
Recurrent duplication-driven transposition of DNA during hominoid evolution. Proc Natl Acad Sci U S A (2006) 1.47
Transposable elements donate lineage-specific regulatory sequences to host genomes. Cytogenet Genome Res (2005) 1.44
The role of transposable elements in the regulation of IFN-lambda1 gene expression. Proc Natl Acad Sci U S A (2009) 1.24
Quantifying the mechanisms for segmental duplications in mammalian genomes by statistical analysis and modeling. Proc Natl Acad Sci U S A (2005) 1.21
Coding sequences of functioning human genes derived entirely from mobile element sequences. Proc Natl Acad Sci U S A (2004) 1.18
Allelic variation of HERV-K(HML-2) endogenous retroviral elements in human populations. J Mol Evol (2004) 1.16
Transposable element derived DNaseI-hypersensitive sites in the human genome. Biol Direct (2006) 1.04
Evolutionary rates and patterns for human transcription factor binding sites derived from repetitive DNA. BMC Genomics (2008) 1.02
Structural divergence between the human and chimpanzee genomes. Hum Genet (2006) 1.01
Elucidating variations in the nucleotide sequence of Ebola virus associated with increasing pathogenicity. Genome Biol (2014) 1.01
Mobile DNA and the TE-Thrust hypothesis: supporting evidence from the primates. Mob DNA (2011) 1.00
Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23. Genome Res (2005) 1.00
Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization. Hum Genet (2006) 0.99
Global patterns of sequence evolution in Drosophila. BMC Genomics (2007) 0.99
Divergent patterns of recent retroviral integrations in the human and chimpanzee genomes: probable transmissions between other primates and chimpanzees. J Virol (2006) 0.97
Punctuated duplication seeding events during the evolution of human chromosome 2p11. Genome Res (2005) 0.97
Mammalian NUMT insertion is non-random. Nucleic Acids Res (2012) 0.97
LINEs and SINEs of primate evolution. Evol Anthropol (2010) 0.96
Genomic divergences among cattle, dog and human estimated from large-scale alignments of genomic sequences. BMC Genomics (2006) 0.93
Genome evolution in Reptilia: in silico chicken mapping of 12,000 BAC-end sequences from two reptiles and a basal bird. BMC Genomics (2009) 0.91
Rates and patterns of great ape retrotransposition. Proc Natl Acad Sci U S A (2013) 0.90
Primate phylogenomics: developing numerous nuclear non-coding, non-repetitive markers for ecological and phylogenetic applications and analysis of evolutionary rate variation. BMC Genomics (2009) 0.89
Ty1 copy number dynamics in Saccharomyces. Genetics (2005) 0.86
Why are young and old repetitive elements distributed differently in the human genome? J Mol Evol (2005) 0.83
Protein interactions with piALU RNA indicates putative participation of retroRNA in the cell cycle, DNA repair and chromatin assembly. Mob Genet Elements (2012) 0.81
Neutral nuclear variation in Baboons (genus Papio) provides insights into their evolutionary and demographic histories. Am J Phys Anthropol (2014) 0.80
Comparative analysis of the primate X-inactivation center region and reconstruction of the ancestral primate XIST locus. Genome Res (2011) 0.80
Optimization of next-generation sequencing transcriptome annotation for species lacking sequenced genomes. Mol Ecol Resour (2015) 0.77
Transposable Element Targeting by piRNAs in Laurasiatherians with Distinct Transposable Element Histories. Genome Biol Evol (2016) 0.76
Universal global imprints of genome growth and evolution--equivalent length and cumulative mutation density. PLoS One (2010) 0.75
A simple method for estimating evolutionary rates of base substitutions through comparative studies of nucleotide sequences. J Mol Evol (1980) 113.75
The sequence of the human genome. Science (2001) 101.55
MEGA2: molecular evolutionary genetics analysis software. Bioinformatics (2001) 38.50
Optimal alignments in linear space. Comput Appl Biosci (1988) 38.10
Recent segmental duplications in the human genome. Science (2002) 21.30
Whole-genome shotgun assembly and analysis of the genome of Fugu rubripes. Science (2002) 20.59
Interspersed repeats and other mementos of transposable elements in mammalian genomes. Curr Opin Genet Dev (1999) 14.64
A molecular timescale for vertebrate evolution. Nature (1998) 13.92
Molecules as documents of evolutionary history. J Theor Biol (1965) 12.52
Alu repeats and human genomic diversity. Nat Rev Genet (2002) 12.40
A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome. Science (2002) 9.59
Genomic divergences between humans and other hominoids and the effective population size of the common ancestor of humans and chimpanzees. Am J Hum Genet (2001) 9.35
Alu repeats and human disease. Mol Genet Metab (1999) 6.64
Genomewide comparison of DNA sequences between humans and chimpanzees. Am J Hum Genet (2002) 5.80
Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs. Proc Natl Acad Sci U S A (1995) 5.12
Exon shuffling by L1 retrotransposition. Science (1999) 4.99
Genomic deletions created upon LINE-1 retrotransposition. Cell (2002) 4.92
The phylogeny of the hominoid primates, as indicated by DNA-DNA hybridization. J Mol Evol (1984) 4.04
Mammalian retroelements. Genome Res (2002) 3.49
The molecular clock runs more slowly in man than in apes and monkeys. Nature (1987) 3.42
Miropeats: graphical DNA sequence comparisons. Comput Appl Biosci (1995) 3.41
The genomic record of Humankind's evolutionary roots. Am J Hum Genet (1999) 3.40
Human chromosome 19 and related regions in mouse: conservative and lineage-specific evolution. Science (2001) 3.39
Molecular phylogeny of the hominoids: inferences from multiple independent DNA sequence data sets. Mol Biol Evol (1997) 3.15
Construction and analysis of a human-chimpanzee comparative clone map. Science (2002) 2.83
Evolution of the master Alu gene(s). J Mol Evol (1991) 2.65
Divergence between samples of chimpanzee and human DNA sequences is 5%, counting indels. Proc Natl Acad Sci U S A (2002) 2.57
Extensive nuclear DNA sequence diversity among chimpanzees. Science (1999) 2.41
Unexpectedly similar rates of nucleotide substitution found in male and female hominids. Nature (2000) 2.39
Molecular evolution of the psi eta-globin gene locus: gibbon phylogeny and the hominoid slowdown. Mol Biol Evol (1991) 2.33
Human BAC ends quality assessment and sequence analyses. Genomics (2000) 2.25
Parallel construction of orthologous sequence-ready clone contig maps in multiple species. Genome Res (2002) 2.18
Assessing the quality of the DNA sequence from the Human Genome Project. Genome Res (1999) 1.87
Deterministic mutation rate variation in the human genome. Genome Res (2002) 1.63
Genomic divergence between human and chimpanzee estimated from large-scale alignments of genomic sequences. J Hered (2002) 1.63
DNA hybridization evidence of hominoid phylogeny: a reanalysis of the data. J Mol Evol (1990) 1.61
Microsatellite evolution inferred from human-chimpanzee genomic sequence alignments. Proc Natl Acad Sci U S A (2002) 1.59
Alu insertion polymorphism: a new type of marker for human population studies. Hum Biol (1992) 1.51
Association between divergence and interspersed repeats in mammalian noncoding genomic DNA. Proc Natl Acad Sci U S A (2001) 1.31
Nucleotide sequence and evolution of the orangutan epsilon globin gene region and surrounding Alu repeats. J Mol Evol (1986) 1.25
Ascertainment bias cannot entirely account for human microsatellites being longer than their chimpanzee homologues. Hum Mol Genet (1998) 1.16
Molecular evolution in the descent of man. Nature (1971) 1.09
Biomedical applications and studies of molecular evolution: a proposal for a primate genomic library resource. Genome Res (2002) 1.08
Gene conversion homogenizes the CMT1A paralogous repeats. BMC Genomics (2001) 0.99
Evolutionary biology. Byte-sized evolution. Nature (1992) 0.91
The TEACL method of DNA-DNA hybridization: technical considerations. J Mol Evol (1990) 0.81
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
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
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
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
Aligning multiple genomic sequences with the threaded blockset aligner. Genome Res (2004) 24.52
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
LAGAN and Multi-LAGAN: efficient tools for large-scale multiple alignment of genomic DNA. Genome Res (2003) 23.03
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
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
The genome sequence of the malaria mosquito Anopheles gambiae. Science (2002) 20.36
Distribution and intensity of constraint in mammalian genomic sequence. Genome Res (2005) 18.85
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Topographical and temporal diversity of the human skin microbiome. Science (2009) 15.96
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
A vision for the future of genomics research. Nature (2003) 14.06
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
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Prepublication data sharing. Nature (2009) 12.24
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
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
Identification and characterization of multi-species conserved sequences. Genome Res (2003) 10.18
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res (2004) 9.18
Complete Khoisan and Bantu genomes from southern Africa. Nature (2010) 9.06
Limitations of next-generation genome sequence assembly. Nat Methods (2010) 9.04
Genetic history of an archaic hominin group from Denisova Cave in Siberia. Nature (2010) 8.99
Diversity of human copy number variation and multicopy genes. Science (2010) 8.97
A high-resolution map of human evolutionary constraint using 29 mammals. Nature (2011) 8.67
A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet (2006) 8.61
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet (2008) 8.44
The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science (2009) 8.23
Focused evolution of HIV-1 neutralizing antibodies revealed by structures and deep sequencing. Science (2011) 7.92
Shotgun sequence assembly and recent segmental duplications within the human genome. Nature (2004) 7.91
A high-coverage genome sequence from an archaic Denisovan individual. Science (2012) 7.89
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet (2006) 7.70
End-sequence profiling: sequence-based analysis of aberrant genomes. Proc Natl Acad Sci U S A (2003) 7.70
A diversity profile of the human skin microbiota. Genome Res (2008) 7.65
De novo mutations in epileptic encephalopathies. Nature (2013) 7.42
Genome structural variation discovery and genotyping. Nat Rev Genet (2011) 7.34
Exome sequencing identifies GRIN2A as frequently mutated in melanoma. Nat Genet (2011) 7.31
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res (2007) 7.05
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res (2009) 6.83
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
PSORTb 3.0: improved protein subcellular localization prediction with refined localization subcategories and predictive capabilities for all prokaryotes. Bioinformatics (2010) 6.57
Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes. Genome Res (2009) 6.42
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
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
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet (2009) 5.93
Complex SNP-related sequence variation in segmental genome duplications. Nat Genet (2004) 5.90
The genome of a songbird. Nature (2010) 5.90
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res (2010) 5.76
Genome analysis of the platypus reveals unique signatures of evolution. Nature (2008) 5.74
A genome-wide comparison of recent chimpanzee and human segmental duplications. Nature (2005) 5.51
Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol (2009) 5.45
Characterization of missing human genome sequences and copy-number polymorphic insertions. Nat Methods (2010) 5.44
Co-evolution of a broadly neutralizing HIV-1 antibody and founder virus. Nature (2013) 5.35
An Alu transposition model for the origin and expansion of human segmental duplications. Am J Hum Genet (2003) 5.33
Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nat Biotechnol (2010) 5.32
Primate segmental duplications: crucibles of evolution, diversity and disease. Nat Rev Genet (2006) 5.25
Modernizing reference genome assemblies. PLoS Biol (2011) 5.23