Focus
Copy Number Variation
Individual genomes vary, not only in sequence, but in both their structural organization and in the number of sequence copies they contain. We now have the technology to understand the mechanisms by which genomes diverge, and to investigate the consequences of copy number variation for gene expression and clinical phenotypes. With sponsorship from Agilent Technologies, we present a Focus on copy number variation highlighting the complementary roles of paired-end sequencing and oligonucleotide array technology in research discovery.
Editorial
Focus on Copy Number Variation
Making diversity count - pS1
Full Text - Making diversity count | PDF (67 KB) - Making diversity count
Research
Focus on Copy Number Variation
A highly annotated whole-genome sequence of a Korean individual - p1011
Jong-Il Kim, Young Seok Ju, Hansoo Park, Sheehyun Kim, Seonwook Lee, Jae-Hyuk Yi, Joann Mudge, Neil A Miller, Dongwan Hong, Callum J Bell, Hye-Sun Kim, In-Soon Chung, Woo-Chung Lee, Ji-Sun Lee, Seung-Hyun Seo, Ji-Young Yun, Hyun Nyun Woo, Heewook Lee, Dongwhan Suh, Seungbok Lee, Hyun-Jin Kim, Maryam Yavartanoo, Minhye Kwak, Ying Zheng, Mi Kyeong Lee, Hyunjun Park, Jeong Yeon Kim, Omer Gokcumen, Ryan E Mills, Alexander Wait Zaranek, Joseph Thakuria, Xiaodi Wu, Ryan W Kim, Jim J Huntley, Shujun Luo, Gary P Schroth, Thomas D Wu, HyeRan Kim, Kap-Seok Yang, Woong-Yang Park, Hyungtae Kim, George M Church, Charles Lee, Stephen F Kingsmore & Jeong-Sun Seo
doi:10.1038/nature08211
Full Text - A highly annotated whole-genome sequence of a Korean individual | PDF (1,114 KB) - A highly annotated whole-genome sequence of a Korean individual
Focus on Copy Number Variation
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans - pp849-853
Feng Zhang, Mehrdad Khajavi, Anne M Connolly, Charles F Towne, Sat Dev Batish, & James R Lupski
doi:10.1038/ng.399
Full Text - DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans | PDF (590 KB) - The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans
Focus on Copy Number Variation
Increased LIS1 expression affects human and mouse brain development - pp168 - 177
Weimin Bi, Tamar Sapir, Oleg A Shchelochkov, Feng Zhang, Marjorie A Withers, Jill V Hunter, Talia Levy, Vera Shinder, Daniel A Peiffer, Kevin L Gunderson, Marjan M Nezarati, Vern Ann Shotts, Stephen S Amato, Sarah K Savage, David J Harris, Debra-Lynn Day-Salvatore, Michele Horner, Xin-Yan Lu, Trilochan Sahoo, Yuchio Yanagawa, Arthur L Beaudet, Sau Wai Cheung, Salvador Martinez, James R Lupski & Orly Reiner
doi:10.1038/ng.302
Full Text - Increased LIS1 expression affects human and mouse brain development | PDF (1,275 KB) - Increased LIS1 expression affects human and mouse brain development
Focus on Copy Number Variation
Mapping and sequencing of structural variation from eight human genomes - p56
Jeffrey M Kidd, Gregory M Cooper, William F Donahue, Hillary S Hayden, Nick Sampas, Tina Graves, Nancy Hansen, Brian Teague, Can Alkan, Francesca Antonacci, Eric Haugen, Troy Zerr, N Alice Yamada, Peter Tsang, Tera L Newman, Eray Tüzün, Ze Cheng, Heather M Ebling, Nadeem Tusneem, Robert David, Will Gillett, Karen A Phelps, Molly Weaver, David Saranga, Adrianne Brand, Wei Tao, Erik Gustafson, Kevin McKernan, Lin Chen, Maika Malig, Joshua D Smith, Joshua M Korn, Steven A McCarroll, David A Altshuler, Daniel A Peiffer, Michael Dorschner, John Stamatoyannopoulos, David Schwartz, Deborah A Nickerson, James C Mullikin, Richard K Wilson, Laurakay Bruhn, Maynard V Olson, Rajinder Kaul, Douglas R Smith & Evan E Eichler
doi:10.1038/nature06862
Full Text - Mapping and sequencing of structural variation from eight human genomes | PDF (716 KB) - Mapping and sequencing of structural variation from eight human genomes
Focus on Copy Number Variation
Closing gaps in the human genome with fosmid resources generated from multiple individuals - pp96 - 101
Donald Bovee, Yang Zhou, Eric Haugen, Zaining Wu, Hillary S Hayden, Will Gillett, Eray Tuzun, Gregory M Cooper, Nick Sampas, Karen Phelps, Ruth Levy, V Anne Morrison, James Sprague, Donald Jewett, Danielle Buckley, Sandhya Subramaniam, Jean Chang, Douglas R Smith, Maynard V Olson, Evan E Eichler & Rajinder Kaul
doi:10.1038/ng.2007.34
Full Text - Closing gaps in the human genome with fosmid resources generated from multiple individuals | PDF (351 KB) - Closing gaps in the human genome with fosmid resources generated from multiple individuals
NPG Library
Comprehensive genomic characterization defines human glioblastoma genes and core pathways - p1061
The Cancer Genome Atlas Research Network
doi:10.1038/nature07385
Full Text - Comprehensive genomic characterization defines human glioblastoma genes and core pathways | PDF (448 KB) - Comprehensive genomic characterization defines human glioblastoma genes and core pathways
Structural variation in the human genome - p85
Lars Feuk, Andrew R Carson & Stephen W Scherer
doi:10.1038/nrg1767
Full Text - Structural variation in the human genome | PDF (327 KB) - Structural variation in the human genome
FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity - pp721 - 723
Manuela Fanciulli, Penny J Norsworthy, Enrico Petretto, Rong Dong, Lorraine Harper, Lavanya Kamesh, Joanne M Heward, Stephen C L Gough, Adam de Smith, Alexandra I F Blakemore, Philippe Froguel, Catherine J Owen, Simon H S Pearce, Luis Teixeira, Loic Guillevin, Deborah S Cunninghame Graham, Charles D Pusey, H Terence Cook, Timothy J Vyse & Timothy J Aitman
doi:10.1038/ng2046
Full Text - SNP and haplotype mapping for genetic analysis in the rat | PDF (138 KB) - SNP and haplotype mapping for genetic analysis in the rat
Phenotypic variations on the theme of CNVs - pp1392 - 1393
Michael C O'Donovan, George Kirov & Michael J Owen
doi:10.1038/ng1208-1392
Full Text - Phenotypic variations on the theme of CNVs | PDF (203 KB) - Phenotypic variations on the theme of CNVs
Schizophrenia: Incriminating genomic evidence - p178
James R Lupski
doi:10.1038/455178a
Full Text - Schizophrenia: Incriminating genomic evidence | PDF (375 KB) - Schizophrenia: Incriminating genomic evidence
Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution - pp1361 - 1368
Zhaoshi Jiang, Haixu Tang, Mario Ventura, Maria Francesca Cardone, Tomas Marques-Bonet, Xinwei She, Pavel A Pevzner & Evan E Eichler
doi:10.1038/ng.2007.9
Full Text - Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution | PDF (974 KB) - Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution
Germline rates of de novo meiotic deletions and duplications causing several genomic disorders - pp90 - 95
Daniel J Turner, Marcos Miretti, Diana Rajan, Heike Fiegler, Nigel P Carter, Martyn L Blayney, Stephan Beck & Matthew E Hurles
doi:10.1038/ng.2007.40
Full Text - Germline rates of de novo meiotic deletions and duplications causing several genomic disorders | PDF (974 KB) - Germline rates of de novo meiotic deletions and duplications causing several genomic disorders
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