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Literature DB >> 22290183

Structural variation: the genome's hidden architecture.

Monya Baker¹.
1. m.baker@us.nature.com

Abstract

Mesh：

Year: 2012 PMID： 22290183 DOI： 10.1038/nmeth.1858

Source DB: PubMed Journal: Nat Methods ISSN： 1548-7091 Impact factor: 28.547

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11 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. High-resolution human genome structure by single-molecule analysis.

Authors: Brian Teague; Michael S Waterman; Steven Goldstein; Konstantinos Potamousis; Shiguo Zhou; Susan Reslewic; Deepayan Sarkar; Anton Valouev; Christopher Churas; Jeffrey M Kidd; Scott Kohn; Rodney Runnheim; Casey Lamers; Dan Forrest; Michael A Newton; Evan E Eichler; Marijo Kent-First; Urvashi Surti; Miron Livny; David C Schwartz
Journal: Proc Natl Acad Sci U S A Date: 2010-06-01 Impact factor: 11.205

3. DNA duplication associated with Charcot-Marie-Tooth disease type 1A.

Authors: J R Lupski; R M de Oca-Luna; S Slaugenhaupt; L Pentao; V Guzzetta; B J Trask; O Saucedo-Cardenas; D F Barker; J M Killian; C A Garcia; A Chakravarti; P I Patel
Journal: Cell Date: 1991-07-26 Impact factor: 41.582

4. Whole-genome molecular haplotyping of single cells.

Authors: H Christina Fan; Jianbin Wang; Anastasia Potanina; Stephen R Quake
Journal: Nat Biotechnol Date: 2010-12-19 Impact factor: 54.908

5. Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly.

Authors: Yingrui Li; Hancheng Zheng; Ruibang Luo; Honglong Wu; Hongmei Zhu; Ruiqiang Li; Hongzhi Cao; Boxin Wu; Shujia Huang; Haojing Shao; Hanzhou Ma; Fan Zhang; Shuijian Feng; Wei Zhang; Hongli Du; Geng Tian; Jingxiang Li; Xiuqing Zhang; Songgang Li; Lars Bolund; Karsten Kristiansen; Adam J de Smith; Alexandra I F Blakemore; Lachlan J M Coin; Huanming Yang; Jian Wang; Jun Wang
Journal: Nat Biotechnol Date: 2011-07-24 Impact factor: 54.908

6. Towards a comprehensive structural variation map of an individual human genome.

Authors: Andy W Pang; Jeffrey R MacDonald; Dalila Pinto; John Wei; Muhammad A Rafiq; Donald F Conrad; Hansoo Park; Matthew E Hurles; Charles Lee; J Craig Venter; Ewen F Kirkness; Samuel Levy; Lars Feuk; Stephen W Scherer
Journal: Genome Biol Date: 2010-05-19 Impact factor: 13.583

7. 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

8. Haplotype-resolved genome sequencing of a Gujarati Indian individual.

Authors: Jacob O Kitzman; Alexandra P Mackenzie; Andrew Adey; Joseph B Hiatt; Rupali P Patwardhan; Peter H Sudmant; Sarah B Ng; Can Alkan; Ruolan Qiu; Evan E Eichler; Jay Shendure
Journal: Nat Biotechnol Date: 2010-12-19 Impact factor: 54.908

9. The genomic complexity of primary human prostate cancer.

Authors: Michael F Berger; Michael S Lawrence; Francesca Demichelis; Yotam Drier; Kristian Cibulskis; Andrey Y Sivachenko; Andrea Sboner; Raquel Esgueva; Dorothee Pflueger; Carrie Sougnez; Robert Onofrio; Scott L Carter; Kyung Park; Lukas Habegger; Lauren Ambrogio; Timothy Fennell; Melissa Parkin; Gordon Saksena; Douglas Voet; Alex H Ramos; Trevor J Pugh; Jane Wilkinson; Sheila Fisher; Wendy Winckler; Scott Mahan; Kristin Ardlie; Jennifer Baldwin; Jonathan W Simons; Naoki Kitabayashi; Theresa Y MacDonald; Philip W Kantoff; Lynda Chin; Stacey B Gabriel; Mark B Gerstein; Todd R Golub; Matthew Meyerson; Ashutosh Tewari; Eric S Lander; Gad Getz; Mark A Rubin; Levi A Garraway
Journal: Nature Date: 2011-02-10 Impact factor: 49.962

10. Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia.

Authors: Vladimir Vacic; Shane McCarthy; Dheeraj Malhotra; Fiona Murray; Hsun-Hua Chou; Aine Peoples; Vladimir Makarov; Seungtai Yoon; Abhishek Bhandari; Roser Corominas; Lilia M Iakoucheva; Olga Krastoshevsky; Verena Krause; Verónica Larach-Walters; David K Welsh; David Craig; John R Kelsoe; Elliot S Gershon; Suzanne M Leal; Marie Dell Aquila; Derek W Morris; Michael Gill; Aiden Corvin; Paul A Insel; Jon McClellan; Mary-Claire King; Maria Karayiorgou; Deborah L Levy; Lynn E DeLisi; Jonathan Sebat
Journal: Nature Date: 2011-02-23 Impact factor: 49.962

28 in total

1. Genome-Wide Mapping of Structural Variations Reveals a Copy Number Variant That Determines Reproductive Morphology in Cucumber.

Authors: Zhonghua Zhang; Linyong Mao; Huiming Chen; Fengjiao Bu; Guangcun Li; Jinjing Sun; Shuai Li; Honghe Sun; Chen Jiao; Rachel Blakely; Junsong Pan; Run Cai; Ruibang Luo; Yves Van de Peer; Evert Jacobsen; Zhangjun Fei; Sanwen Huang
Journal: Plant Cell Date: 2015-05-22 Impact factor: 11.277

2. Universal amplification, next-generation sequencing, and assembly of HIV-1 genomes.

Authors: Astrid Gall; Bridget Ferns; Clare Morris; Simon Watson; Matthew Cotten; Mark Robinson; Neil Berry; Deenan Pillay; Paul Kellam
Journal: J Clin Microbiol Date: 2012-09-19 Impact factor: 5.948

3. Application of high-resolution array platform for genome-wide copy number variation analysis in patients with nonsyndromic cleft lip and palate.

Authors: Heglayne Pereira Vital da Silva; Gustavo Henrique de Medeiros Oliveira; Marcela Abbott Galvão Ururahy; João Felipe Bezerra; Karla Simone Costa de Souza; Raul Hernandes Bortolin; André Ducati Luchessi; Vivian Nogueira Silbiger; Valéria Morgiana Gualberto Duarte Moreira Lima; Gisele Correia Pacheco Leite; Maria Edinilma Felinto Brito; Erlane Marques Ribeiro; Vera Lúcia Gil-da-Silva-Lopes; Adriana Augusto de Rezende
Journal: J Clin Lab Anal Date: 2018-03-07 Impact factor: 2.352

4. Structural Variant in Mitochondrial-Associated Gene (MRPL3) Induces Adult-Onset Neurodegeneration with Memory Impairment in the Mouse.

Authors: Lindsay S Cahill; Jessie M Cameron; Julie Winterburn; Patrick Macos; Johnathan Hoggarth; Misko Dzamba; Michael Brudno; Lauryl M J Nutter; Thomas J Sproule; Robert W Burgess; R Mark Henkelman; John G Sled
Journal: J Neurosci Date: 2020-04-27 Impact factor: 6.167

5. Genomic coordinates and continental distribution of 120 blood group variants reported by the 1000 Genomes Project.

Authors: Celina Montemayor-Garcia; Panagiota Karagianni; David A Stiles; Erika M Reese; Danielle A Smellie; Debrean A Loy; Kimberly Y Levy; Magdalene Nwokocha; Marina U Bueno; Jeffery L Miller; Harvey G Klein
Journal: Transfusion Date: 2018-10-12 Impact factor: 3.157

Review 6. The state of play in higher eukaryote gene annotation.

Authors: Jonathan M Mudge; Jennifer Harrow
Journal: Nat Rev Genet Date: 2016-10-24 Impact factor: 53.242

7. Molecular Cytogenetics Guides Massively Parallel Sequencing of a Radiation-Induced Chromosome Translocation in Human Cells.

Authors: Michael N Cornforth; Pavana Anur; Nicholas Wang; Erin Robinson; F Andrew Ray; Joel S Bedford; Bradford D Loucas; Eli S Williams; Myron Peto; Paul Spellman; Rahul Kollipara; Ralf Kittler; Joe W Gray; Susan M Bailey
Journal: Radiat Res Date: 2018-05-11 Impact factor: 2.841