Literature DB >> 20428091

Copy number variation and human genome maps.

Steven A McCarroll1.   

Abstract

Maps of human genome copy number variation (CNV) are maturing into useful resources for complex disease genetics. Four new studies increase the resolution of CNV maps and seek to locate human phenotypic variation on these maps.

Entities:  

Mesh：

Year:  2010        PMID： 20428091     DOI： 10.1038/ng0510-365

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  15 in total

1.  Detection of large-scale variation in the human genome.

Authors:  A John Iafrate; Lars Feuk; Miguel N Rivera; Marc L Listewnik; Patricia K Donahoe; Ying Qi; Stephen W Scherer; Charles Lee
Journal:  Nat Genet       Date:  2004-08-01       Impact factor: 38.330

2.  Fine-scale structural variation of the human genome.

Authors:  Eray Tuzun; Andrew J Sharp; Jeffrey A Bailey; Rajinder Kaul; V Anne Morrison; Lisa M Pertz; Eric Haugen; Hillary Hayden; Donna Albertson; Daniel Pinkel; Maynard V Olson; Evan E Eichler
Journal:  Nat Genet       Date:  2005-05-15       Impact factor: 38.330

3.  The fine-scale and complex architecture of human copy-number variation.

Authors:  George H Perry; Amir Ben-Dor; Anya Tsalenko; Nick Sampas; Laia Rodriguez-Revenga; Charles W Tran; Alicia Scheffer; Israel Steinfeld; Peter Tsang; N Alice Yamada; Han Soo Park; Jong-Il Kim; Jeong-Sun Seo; Zohar Yakhini; Stephen Laderman; Laurakay Bruhn; Charles Lee
Journal:  Am J Hum Genet       Date:  2008-01-24       Impact factor: 11.025

4.  Integrated detection and population-genetic analysis of SNPs and copy number variation.

Authors:  Steven A McCarroll; Finny G Kuruvilla; Joshua M Korn; Simon Cawley; James Nemesh; Alec Wysoker; Michael H Shapero; Paul I W de Bakker; Julian B Maller; Andrew Kirby; Amanda L Elliott; Melissa Parkin; Earl Hubbell; Teresa Webster; Rui Mei; James Veitch; Patrick J Collins; Robert Handsaker; Steve Lincoln; Marcia Nizzari; John Blume; Keith W Jones; Rich Rava; Mark J Daly; Stacey B Gabriel; David Altshuler
Journal:  Nat Genet       Date:  2008-09-07       Impact factor: 38.330

5.  Global variation in copy number in the human genome.

Authors:  Richard Redon; Shumpei Ishikawa; Karen R Fitch; Lars Feuk; George H Perry; T Daniel Andrews; Heike Fiegler; Michael H Shapero; Andrew R Carson; Wenwei Chen; Eun Kyung Cho; Stephanie Dallaire; Jennifer L Freeman; Juan R González; Mònica Gratacòs; Jing Huang; Dimitrios Kalaitzopoulos; Daisuke Komura; Jeffrey R MacDonald; Christian R Marshall; Rui Mei; Lyndal Montgomery; Kunihiro Nishimura; Kohji Okamura; Fan Shen; Martin J Somerville; Joelle Tchinda; Armand Valsesia; Cara Woodwark; Fengtang Yang; Junjun Zhang; Tatiana Zerjal; Jane Zhang; Lluis Armengol; Donald F Conrad; Xavier Estivill; Chris Tyler-Smith; Nigel P Carter; Hiroyuki Aburatani; Charles Lee; Keith W Jones; Stephen W Scherer; Matthew E Hurles
Journal:  Nature       Date:  2006-11-23       Impact factor: 49.962

6.  Large-scale copy number polymorphism in the human genome.

Authors:  Jonathan Sebat; B Lakshmi; Jennifer Troge; Joan Alexander; Janet Young; Pär Lundin; Susanne Månér; Hillary Massa; Megan Walker; Maoyen Chi; Nicholas Navin; Robert Lucito; John Healy; James Hicks; Kenny Ye; Andrew Reiner; T Conrad Gilliam; Barbara Trask; Nick Patterson; Anders Zetterberg; Michael Wigler
Journal:  Science       Date:  2004-07-23       Impact factor: 47.728

7.  Origins and functional impact of copy number variation in the human genome.

Authors:  Donald F Conrad; Dalila Pinto; Richard Redon; Lars Feuk; Omer Gokcumen; Yujun Zhang; Jan Aerts; T Daniel Andrews; Chris Barnes; Peter Campbell; Tomas Fitzgerald; Min Hu; Chun Hwa Ihm; Kati Kristiansson; Daniel G Macarthur; Jeffrey R Macdonald; Ifejinelo Onyiah; Andy Wing Chun Pang; Sam Robson; Kathy Stirrups; Armand Valsesia; Klaudia Walter; John Wei; Chris Tyler-Smith; Nigel P Carter; Charles Lee; Stephen W Scherer; Matthew E Hurles
Journal:  Nature       Date:  2009-10-07       Impact factor: 49.962

8.  The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.

Authors:  Feng Zhang; Mehrdad Khajavi; Anne M Connolly; Charles F Towne; Sat Dev Batish; James R Lupski
Journal:  Nat Genet       Date:  2009-06-21       Impact factor: 38.330

9.  Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease.

Authors:  Steven A McCarroll; Alan Huett; Petric Kuballa; Shannon D Chilewski; Aimee Landry; Philippe Goyette; Michael C Zody; Jennifer L Hall; Steven R Brant; Judy H Cho; Richard H Duerr; Mark S Silverberg; Kent D Taylor; John D Rioux; David Altshuler; Mark J Daly; Ramnik J Xavier
Journal:  Nat Genet       Date:  2008-09       Impact factor: 38.330

10.  Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.

Authors:  Cristen J Willer; Elizabeth K Speliotes; Ruth J F Loos; Shengxu Li; Cecilia M Lindgren; Iris M Heid; Sonja I Berndt; Amanda L Elliott; Anne U Jackson; Claudia Lamina; Guillaume Lettre; Noha Lim; Helen N Lyon; Steven A McCarroll; Konstantinos Papadakis; Lu Qi; Joshua C Randall; Rosa Maria Roccasecca; Serena Sanna; Paul Scheet; Michael N Weedon; Eleanor Wheeler; Jing Hua Zhao; Leonie C Jacobs; Inga Prokopenko; Nicole Soranzo; Toshiko Tanaka; Nicholas J Timpson; Peter Almgren; Amanda Bennett; Richard N Bergman; Sheila A Bingham; Lori L Bonnycastle; Morris Brown; Noël P Burtt; Peter Chines; Lachlan Coin; Francis S Collins; John M Connell; Cyrus Cooper; George Davey Smith; Elaine M Dennison; Parimal Deodhar; Paul Elliott; Michael R Erdos; Karol Estrada; David M Evans; Lauren Gianniny; Christian Gieger; Christopher J Gillson; Candace Guiducci; Rachel Hackett; David Hadley; Alistair S Hall; Aki S Havulinna; Johannes Hebebrand; Albert Hofman; Bo Isomaa; Kevin B Jacobs; Toby Johnson; Pekka Jousilahti; Zorica Jovanovic; Kay-Tee Khaw; Peter Kraft; Mikko Kuokkanen; Johanna Kuusisto; Jaana Laitinen; Edward G Lakatta; Jian'an Luan; Robert N Luben; Massimo Mangino; Wendy L McArdle; Thomas Meitinger; Antonella Mulas; Patricia B Munroe; Narisu Narisu; Andrew R Ness; Kate Northstone; Stephen O'Rahilly; Carolin Purmann; Matthew G Rees; Martin Ridderstråle; Susan M Ring; Fernando Rivadeneira; Aimo Ruokonen; Manjinder S Sandhu; Jouko Saramies; Laura J Scott; Angelo Scuteri; Kaisa Silander; Matthew A Sims; Kijoung Song; Jonathan Stephens; Suzanne Stevens; Heather M Stringham; Y C Loraine Tung; Timo T Valle; Cornelia M Van Duijn; Karani S Vimaleswaran; Peter Vollenweider; Gerard Waeber; Chris Wallace; Richard M Watanabe; Dawn M Waterworth; Nicholas Watkins; Jacqueline C M Witteman; Eleftheria Zeggini; Guangju Zhai; M Carola Zillikens; David Altshuler; Mark J Caulfield; Stephen J Chanock; I Sadaf Farooqi; Luigi Ferrucci; Jack M Guralnik; Andrew T Hattersley; Frank B Hu; Marjo-Riitta Jarvelin; Markku Laakso; Vincent Mooser; Ken K Ong; Willem H Ouwehand; Veikko Salomaa; Nilesh J Samani; Timothy D Spector; Tiinamaija Tuomi; Jaakko Tuomilehto; Manuela Uda; André G Uitterlinden; Nicholas J Wareham; Panagiotis Deloukas; Timothy M Frayling; Leif C Groop; Richard B Hayes; David J Hunter; Karen L Mohlke; Leena Peltonen; David Schlessinger; David P Strachan; H-Erich Wichmann; Mark I McCarthy; Michael Boehnke; Inês Barroso; Gonçalo R Abecasis; Joel N Hirschhorn
Journal:  Nat Genet       Date:  2008-12-14       Impact factor: 38.330
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  12 in total

1.  Increased frequency of complement C4B deficiency in rheumatoid arthritis.

Authors:  William F C Rigby; Yee Ling Wu; Moe Zan; Bi Zhou; Sanna Rosengren; Cheryl Carlson; Whitney Hilton; C Yung Yu
Journal:  Arthritis Rheum       Date:  2012-05

Review 2.  The genetics of asthma and allergic disease: a 21st century perspective.

Authors:  Carole Ober; Tsung-Chieh Yao
Journal:  Immunol Rev       Date:  2011-07       Impact factor: 12.988

Review 3.  Initial impact of the sequencing of the human genome.

Authors:  Eric S Lander
Journal:  Nature       Date:  2011-02-10       Impact factor: 49.962

4.  Meet me halfway: when genomics meets structural bioinformatics.

Authors:  Sungsam Gong; Catherine L Worth; Tammy M K Cheng; Tom L Blundell
Journal:  J Cardiovasc Transl Res       Date:  2011-02-25       Impact factor: 4.132

5.  Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV.

Authors:  Jarupon Fah Sathirapongsasuti; Hane Lee; Basil A J Horst; Georg Brunner; Alistair J Cochran; Scott Binder; John Quackenbush; Stanley F Nelson
Journal:  Bioinformatics       Date:  2011-08-09       Impact factor: 6.937

Review 6.  Genetic architecture of colorectal cancer.

Authors:  Ulrike Peters; Stephanie Bien; Niha Zubair
Journal:  Gut       Date:  2015-07-17       Impact factor: 23.059

7.  Copy number variation in the horse genome.

Authors:  Sharmila Ghosh; Zhipeng Qu; Pranab J Das; Erica Fang; Rytis Juras; E Gus Cothran; Sue McDonell; Daniel G Kenney; Teri L Lear; David L Adelson; Bhanu P Chowdhary; Terje Raudsepp
Journal:  PLoS Genet       Date:  2014-10-23       Impact factor: 5.917

8.  Analysis of copy number variations in the sheep genome using 50K SNP BeadChip array.

Authors:  Jiasen Liu; Li Zhang; Lingyang Xu; Hangxing Ren; Jian Lu; Xiaoning Zhang; Shifang Zhang; Xinlei Zhou; Caihong Wei; Fuping Zhao; Lixin Du
Journal:  BMC Genomics       Date:  2013-04-08       Impact factor: 3.969

9.  Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.

Authors:  Joanna Wiszniewska; Weimin Bi; Chad Shaw; Pawel Stankiewicz; Sung-Hae L Kang; Amber N Pursley; Seema Lalani; Patricia Hixson; Tomasz Gambin; Chun-hui Tsai; Hans-Georg Bock; Maria Descartes; Frank J Probst; Fernando Scaglia; Arthur L Beaudet; James R Lupski; Christine Eng; Sau Wai Cheung; Carlos Bacino; Ankita Patel
Journal:  Eur J Hum Genet       Date:  2013-05-22       Impact factor: 4.246

10.  Discovery of MLL1 binding units, their localization to CpG Islands, and their potential function in mitotic chromatin.

Authors:  Minou Bina; Phillip Wyss; Elise Novorolsky; Noorfatin Zulkelfi; Jing Xue; Randi Price; Matthew Fay; Zach Gutmann; Brian Fogler; Daidong Wang
Journal:  BMC Genomics       Date:  2013-12-28       Impact factor: 3.969
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