Focus on Copy Number Variation

Making diversity count - pS1

Full Text - Making diversity count | PDF (67 KB) - Making diversity count

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

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