Detection and interpretation of genomic structural variation in mammals.

[1]  Tad S Sonstegard,et al.  Analysis of copy number variations among diverse cattle breeds. , 2010, Genome research.

[2]  Tomas W. Fitzgerald,et al.  Origins and functional impact of copy number variation in the human genome , 2010, Nature.

[3]  Ira M. Hall,et al.  Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome. , 2010, Genome research.

[4]  Emily H Turner,et al.  Target-enrichment strategies for next-generation sequencing , 2010, Nature Methods.

[5]  E. Ostrander,et al.  Leading the way: canine models of genomics and disease , 2010, Disease Models & Mechanisms.

[6]  Yong-shu He,et al.  [Structural variation in the human genome]. , 2009, Yi chuan = Hereditas.

[7]  E. Eichler,et al.  Analysis of recent segmental duplications in the bovine genome , 2009, BMC Genomics.

[8]  Paul Medvedev,et al.  Computational methods for discovering structural variation with next-generation sequencing , 2009, Nature Methods.

[9]  Judy H. Cho,et al.  Finding the missing heritability of complex diseases , 2009, Nature.

[10]  E. Eichler,et al.  The origins and impact of primate segmental duplications. , 2009, Trends in genetics : TIG.

[11]  M. Batzer,et al.  The impact of retrotransposons on human genome evolution , 2009, Nature Reviews Genetics.

[12]  E. Kirkness,et al.  Mobile elements create structural variation: analysis of a complete human genome. , 2009, Genome research.

[13]  Kenny Q. Ye,et al.  Sensitive and accurate detection of copy number variants using read depth of coverage. , 2009, Genome research.

[14]  Francisco M. De La Vega,et al.  Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. , 2009, Genome research.

[15]  J. Kitzman,et al.  Personalized Copy-Number and Segmental Duplication Maps using Next-Generation Sequencing , 2009, Nature Genetics.

[16]  Kristopher L. Nazor,et al.  Adult mice generated from induced pluripotent stem cells , 2009, Nature.

[17]  J. Lupski,et al.  Mechanisms of change in gene copy number , 2009, Nature Reviews Genetics.

[18]  Mark Gerstein,et al.  Integrating Sequencing Technologies in Personal Genomics: Optimal Low Cost Reconstruction of Structural Variants , 2009, PLoS Comput. Biol..

[19]  P. Stankiewicz,et al.  Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. , 2009, Human molecular genetics.

[20]  Gonçalo R. Abecasis,et al.  The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..

[21]  Sangsoo Kim,et al.  The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group. , 2009, Genome research.

[22]  Richard Durbin,et al.  Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .

[23]  Süleyman Cenk Sahinalp,et al.  Combinatorial Algorithms for Structural Variation Detection in High Throughput Sequenced Genomes , 2009, RECOMB.

[24]  Peter A. Meric,et al.  Lineage-Specific Biology Revealed by a Finished Genome Assembly of the Mouse , 2009, PLoS biology.

[25]  Charlotte N. Henrichsen,et al.  Segmental copy number variation shapes tissue transcriptomes , 2009, Nature Genetics.

[26]  P. Cahan,et al.  The impact of copy number variation on local gene expression in mouse hematopoietic stem/progenitor cells , 2009, Nature Genetics.

[27]  J. Lupski,et al.  A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation , 2009, PLoS genetics.

[28]  Thomas J. Nicholas,et al.  The genomic architecture of segmental duplications and associated copy number variants in dogs. , 2008, Genome research.

[29]  K. Baldwin,et al.  Adult mice generated from induced pluripotent stem , 2009 .

[30]  Joshua D. Swartz,et al.  Mapping DNA structural variation in dogs. , 2009, Genome research.

[31]  Christopher A. Miller,et al.  A sequence-level map of chromosomal breakpoints in the MCF-7 breast cancer cell line yields insights into the evolution of a cancer genome. , 2009, Genome research.

[32]  Derek Y. Chiang,et al.  High-resolution mapping of copy-number alterations with massively parallel sequencing , 2009, Nature Methods.

[33]  Hugo Y. K. Lam,et al.  Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history. , 2008, Genome research.

[34]  A. Bradley,et al.  Extensive genomic copy number variation in embryonic stem cells , 2008, Proceedings of the National Academy of Sciences.

[35]  Dawei Li,et al.  The diploid genome sequence of an Asian individual , 2008, Nature.

[36]  Nancy F. Hansen,et al.  Accurate Whole Human Genome Sequencing using Reversible Terminator Chemistry , 2008, Nature.

[37]  J. Komorowski,et al.  Somatic mosaicism for copy number variation in differentiated human tissues , 2008, Human mutation.

[38]  Marius Wernig,et al.  A drug-inducible transgenic system for direct reprogramming of multiple somatic cell types , 2008, Nature Biotechnology.

[39]  R. Mott,et al.  The Collaborative Cross, developing a resource for mammalian systems genetics: A status report of the Wellcome Trust cohort , 2008, Mammalian Genome.

[40]  P. Marynen,et al.  Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. , 2008, Genome research.

[41]  E. Eichler,et al.  Mouse segmental duplication and copy number variation , 2008, Nature Genetics.

[42]  Joshua M. Korn,et al.  Mapping and sequencing of structural variation from eight human genomes , 2008, Nature.

[43]  S. V. Heesch,et al.  Distribution and functional impact of DNA copy number variation in the rat , 2008, Nature Genetics.

[44]  E. Birney,et al.  SNP and haplotype mapping for genetic analysis in the rat , 2008, Nature Genetics.

[45]  Ali Bashir,et al.  Evaluation of Paired-End Sequencing Strategies for Detection of Genome Rearrangements in Cancer , 2008, PLoS Comput. Biol..

[46]  Jan Komorowski,et al.  Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. , 2008, American journal of human genetics.

[47]  Natalia Volfovsky,et al.  Extensive variation between inbred mouse strains due to endogenous L1 retrotransposition. , 2008, Genome research.

[48]  J. Lupski,et al.  A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders , 2007, Cell.

[49]  P. Kassner,et al.  Significant gene content variation characterizes the genomes of inbred mouse strains. , 2007, Genome research.

[50]  Ira M. Hall,et al.  Recurrent DNA copy number variation in the laboratory mouse , 2007, Nature Genetics.

[51]  Philip M. Kim,et al.  Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome , 2007, Science.

[52]  Eleazar Eskin,et al.  A sequence-based variation map of 8.27 million SNPs in inbred mouse strains , 2007, Nature.

[53]  J. Lupski,et al.  Genomic rearrangements and sporadic disease , 2007, Nature Genetics.

[54]  A. Jeffreys,et al.  Processes of de novo duplication of human α-globin genes , 2007, Proceedings of the National Academy of Sciences.

[55]  David Valle,et al.  Recurrent DNA inversion rearrangements in the human genome. , 2007 .

[56]  R. Redon,et al.  Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes , 2007, Science.

[57]  P. Cahan,et al.  A High-Resolution Map of Segmental DNA Copy Number Variation in the Mouse Genome , 2006, PLoS genetics.

[58]  A. Jeffreys,et al.  Processes of de novo duplication of human alpha-globin genes. , 2007, Proceedings of the National Academy of Sciences of the United States of America.

[59]  D. Conrad,et al.  Global variation in copy number in the human genome , 2006, Nature.

[60]  Ryan E. Mills,et al.  An initial map of insertion and deletion (INDEL) variation in the human genome. , 2006, Genome research.

[61]  S. Yamanaka,et al.  Induction of Pluripotent Stem Cells from Mouse Embryonic and Adult Fibroblast Cultures by Defined Factors , 2006, Cell.

[62]  P. Stankiewicz,et al.  Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. , 2006, Human molecular genetics.

[63]  Junjun Zhang,et al.  Hotspots for copy number variation in chimpanzees and humans. , 2006, Proceedings of the National Academy of Sciences of the United States of America.

[64]  James A. Cuff,et al.  Genome sequence, comparative analysis and haplotype structure of the domestic dog , 2005, Nature.

[65]  Mark J Daly,et al.  Genetic variation in laboratory mice , 2005, Nature Genetics.

[66]  P. Pevzner,et al.  Dynamics of Mammalian Chromosome Evolution Inferred from Multispecies Comparative Maps , 2005, Science.

[67]  E. Eichler,et al.  Segmental duplications and copy-number variation in the human genome. , 2005, American journal of human genetics.

[68]  E. Eichler,et al.  Fine-scale structural variation of the human genome , 2005, Nature Genetics.

[69]  J. Mullikin,et al.  Complex haplotypes, copy number polymorphisms and coding variation in two recently divergent mouse strains , 2005, Nature Genetics.

[70]  Ajay N. Jain,et al.  Mapping segmental and sequence variations among laboratory mice using BAC array CGH. , 2005, Genome research.

[71]  R. Gibbs,et al.  Genomic segmental polymorphisms in inbred mouse strains , 2004, Nature Genetics.

[72]  L. Feuk,et al.  Detection of large-scale variation in the human genome , 2004, Nature Genetics.

[73]  Kenny Q. Ye,et al.  Large-Scale Copy Number Polymorphism in the Human Genome , 2004, Science.

[74]  E. Eichler,et al.  Analysis of segmental duplications and genome assembly in the mouse. , 2004, Genome research.

[75]  E. Eichler,et al.  Recent segmental duplications in the working draft assembly of the brown Norway rat. , 2004, Genome research.

[76]  P. Pevzner,et al.  Reconstructing the genomic architecture of ancestral mammals: lessons from human, mouse, and rat genomes. , 2004, Genome research.

[77]  H. Kazazian.  Mobile Elements: Drivers of Genome Evolution , 2004, Science.

[78]  D. Haussler,et al.  Hotspots of mammalian chromosomal evolution , 2004, Genome Biology.

[79]  E. Eichler,et al.  An Alu transposition model for the origin and expansion of human segmental duplications. , 2003, American journal of human genetics.

[80]  L. Shaffer,et al.  Genome architecture catalyzes nonrecurrent chromosomal rearrangements. , 2003, American journal of human genetics.

[81]  Eric S. Lander,et al.  The mosaic structure of variation in the laboratory mouse genome , 2002, Nature.

[82]  M. Adams,et al.  Recent Segmental Duplications in the Human Genome , 2002, Science.

[83]  B. Trask,et al.  Segmental duplications: organization and impact within the current human genome project assembly. , 2001, Genome research.