Published in Genome Biol on August 23, 2012
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Copy number variation contributes to cryptic genetic variation in outbreak lineages of Cryptococcus gattii from the North American Pacific Northwest. BMC Genomics (2016) 0.75
Copy number variants in the sheep genome detected using multiple approaches. BMC Genomics (2016) 0.75
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Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet (2008) 9.52
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature (2006) 9.30
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PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice. Science (2009) 8.72
A common sequence motif associated with recombination hot spots and genome instability in humans. Nat Genet (2008) 8.64
Diet and the evolution of human amylase gene copy number variation. Nat Genet (2007) 8.64
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Prdm9 controls activation of mammalian recombination hotspots. Science (2009) 7.02
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Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet (2009) 5.93
A single IGF1 allele is a major determinant of small size in dogs. Science (2007) 4.68
Genome-wide SNP and haplotype analyses reveal a rich history underlying dog domestication. Nature (2010) 4.64
Mouse segmental duplication and copy number variation. Nat Genet (2008) 4.24
Accelerated evolution of the Prdm9 speciation gene across diverse metazoan taxa. PLoS Genet (2009) 3.60
Evolutionary toggling of the MAPT 17q21.31 inversion region. Nat Genet (2008) 3.42
An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs. Science (2009) 3.29
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Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis. Am J Hum Genet (2008) 2.65
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Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs. Nat Genet (2007) 2.33
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Death of PRDM9 coincides with stabilization of the recombination landscape in the dog genome. Genome Res (2011) 1.62
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Man's best friend becomes biology's best in show: genome analyses in the domestic dog. Annu Rev Genet (2010) 1.51
Analysis of the DNA sequence and duplication history of human chromosome 15. Nature (2006) 1.50
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The legacy of domestication: accumulation of deleterious mutations in the dog genome. Mol Biol Evol (2008) 1.47
A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs. PLoS Genet (2011) 1.45
A high-resolution integrated map of copy number polymorphisms within and between breeds of the modern domesticated dog. BMC Genomics (2011) 1.18
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
Full-length transcriptome assembly from RNA-Seq data without a reference genome. Nat Biotechnol (2011) 53.86
Systematic discovery of regulatory motifs in human promoters and 3' UTRs by comparison of several mammals. Nature (2005) 31.60
Somatic mutations affect key pathways in lung adenocarcinoma. Nature (2008) 30.02
Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature (2005) 23.04
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Genomic maps and comparative analysis of histone modifications in human and mouse. Cell (2005) 18.96
Evolution of genes and genomes on the Drosophila phylogeny. Nature (2007) 18.01
Common deletion polymorphisms in the human genome. Nat Genet (2006) 15.66
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Genome duplication in the teleost fish Tetraodon nigroviridis reveals the early vertebrate proto-karyotype. Nature (2004) 11.03
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet (2008) 9.52
A high-resolution map of human evolutionary constraint using 29 mammals. Nature (2011) 8.67
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Distinguishing protein-coding and noncoding genes in the human genome. Proc Natl Acad Sci U S A (2007) 8.00
Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences. Nature (2007) 7.91
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res (2007) 7.05
Identification and classification of conserved RNA secondary structures in the human genome. PLoS Comput Biol (2006) 6.73
The mosaic structure of variation in the laboratory mouse genome. Nature (2002) 6.54
Genome sequence and analysis of the Irish potato famine pathogen Phytophthora infestans. Nature (2009) 6.44
28-way vertebrate alignment and conservation track in the UCSC Genome Browser. Genome Res (2007) 6.42
Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy. Nat Genet (2010) 6.10
Efficient mapping of mendelian traits in dogs through genome-wide association. Nat Genet (2007) 5.99
Whole-genome resequencing reveals loci under selection during chicken domestication. Nature (2010) 5.48
Dynamics of mammalian chromosome evolution inferred from multispecies comparative maps. Science (2005) 5.47
Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol (2009) 5.45
The genomic basis of adaptive evolution in threespine sticklebacks. Nature (2012) 5.20
Systematic discovery of regulatory motifs in conserved regions of the human genome, including thousands of CTCF insulator sites. Proc Natl Acad Sci U S A (2007) 4.91
Initial sequence and comparative analysis of the cat genome. Genome Res (2007) 4.67
An initial strategy for the systematic identification of functional elements in the human genome by low-redundancy comparative sequencing. Proc Natl Acad Sci U S A (2005) 4.38
Sequencing the nuclear genome of the extinct woolly mammoth. Nature (2008) 4.31
Identifying novel constrained elements by exploiting biased substitution patterns. Bioinformatics (2009) 4.30
Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species. Gigascience (2013) 4.11
Finished bacterial genomes from shotgun sequence data. Genome Res (2012) 3.86
The genomic signature of dog domestication reveals adaptation to a starch-rich diet. Nature (2013) 3.61
Advancing RNA-Seq analysis. Nat Biotechnol (2010) 3.54
Whole genome deep sequencing of HIV-1 reveals the impact of early minor variants upon immune recognition during acute infection. PLoS Pathog (2012) 3.35
The genome of the green anole lizard and a comparative analysis with birds and mammals. Nature (2011) 3.32
Drug-sensitive FGFR2 mutations in endometrial carcinoma. Proc Natl Acad Sci U S A (2008) 3.30
The African coelacanth genome provides insights into tetrapod evolution. Nature (2013) 2.78
Coat variation in the domestic dog is governed by variants in three genes. Science (2009) 2.70
Mutation rate variation in the mammalian genome. Curr Opin Genet Dev (2003) 2.63
Genome evolution following host jumps in the Irish potato famine pathogen lineage. Science (2010) 2.62
Genome-wide synteny through highly sensitive sequence alignment: Satsuma. Bioinformatics (2010) 2.56
Why do human diversity levels vary at a megabase scale? Genome Res (2005) 2.33
Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs. Nat Genet (2007) 2.33
A 1-Mb resolution radiation hybrid map of the canine genome. Proc Natl Acad Sci U S A (2003) 2.30
Dynamics of dengue disease severity determined by the interplay between viral genetics and serotype-specific immunity. Sci Transl Med (2011) 2.29
Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping. PLoS Genet (2011) 2.24
Complete viral RNA genome sequencing of ultra-low copy samples by sequence-independent amplification. Nucleic Acids Res (2012) 2.19
A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse. Nat Genet (2008) 2.13
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Three periods of regulatory innovation during vertebrate evolution. Science (2011) 2.09
The dog as a cancer model. Nat Biotechnol (2006) 2.08
A mutation in hairless dogs implicates FOXI3 in ectodermal development. Science (2008) 2.06
Highly sensitive and specific detection of rare variants in mixed viral populations from massively parallel sequence data. PLoS Comput Biol (2012) 1.93
DNA sequence and analysis of human chromosome 8. Nature (2006) 1.91
Hotspots of biased nucleotide substitutions in human genes. PLoS Biol (2009) 1.89
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet (2004) 1.88
De novo assembly of highly diverse viral populations. BMC Genomics (2012) 1.87
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature (2006) 1.81
Rethinking dog domestication by integrating genetics, archeology, and biogeography. Proc Natl Acad Sci U S A (2012) 1.78
Comparison of the chicken and turkey genomes reveals a higher rate of nucleotide divergence on microchromosomes than macrochromosomes. Genome Res (2004) 1.73
The recombination landscape of the zebra finch Taeniopygia guttata genome. Genome Res (2010) 1.72
Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2009) 1.72
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology (2005) 1.70
Genome-wide analysis in German shepherd dogs reveals association of a locus on CFA 27 with atopic dermatitis. PLoS Genet (2013) 1.69
Mutation discovery in mice by whole exome sequencing. Genome Biol (2011) 1.69
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. PLoS Genet (2009) 1.68
A high density SNP array for the domestic horse and extant Perissodactyla: utility for association mapping, genetic diversity, and phylogeny studies. PLoS Genet (2012) 1.66