Literature DB >> 20877315

Public data archives for genomic structural variation.

Deanna M Church, Ilkka Lappalainen, Tam P Sneddon, Jonathan Hinton, Michael Maguire, John Lopez, John Garner, Justin Paschall, Michael DiCuccio, Eugene Yaschenko, Stephen W Scherer, Lars Feuk, Paul Flicek.   

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Year:  2010        PMID： 20877315      PMCID： PMC3169170          DOI： 10.1038/ng1010-813

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


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  14 in total

Review 1.  Structural variation in the human genome.

Authors:  Lars Feuk; Andrew R Carson; Stephen W Scherer
Journal:  Nat Rev Genet       Date:  2006-02       Impact factor: 53.242

2.  Completing the map of human genetic variation.

Authors:  Evan E Eichler; Deborah A Nickerson; David Altshuler; Anne M Bowcock; Lisa D Brooks; Nigel P Carter; Deanna M Church; Adam Felsenfeld; Mark Guyer; Charles Lee; James R Lupski; James C Mullikin; Jonathan K Pritchard; Jonathan Sebat; Stephen T Sherry; Douglas Smith; David Valle; Robert H Waterston
Journal:  Nature       Date:  2007-05-10       Impact factor: 49.962

Review 3.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors:  David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2010-05-14       Impact factor: 11.025

4.  Finishing the euchromatic sequence of the human genome.

Authors: 
Journal:  Nature       Date:  2004-10-21       Impact factor: 49.962

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.  New goals for the U.S. Human Genome Project: 1998-2003.

Authors:  F S Collins; A Patrinos; E Jordan; A Chakravarti; R Gesteland; L Walters
Journal:  Science       Date:  1998-10-23       Impact factor: 47.728

7.  Acquired copy number alterations in adult acute myeloid leukemia genomes.

Authors:  Matthew J Walter; Jacqueline E Payton; Rhonda E Ries; William D Shannon; Hrishikesh Deshmukh; Yu Zhao; Jack Baty; Sharon Heath; Peter Westervelt; Mark A Watson; Michael H Tomasson; Rakesh Nagarajan; Brian P O'Gara; Clara D Bloomfield; Krzysztof Mrózek; Rebecca R Selzer; Todd A Richmond; Jacob Kitzman; Joel Geoghegan; Peggy S Eis; Rachel Maupin; Robert S Fulton; Michael McLellan; Richard K Wilson; Elaine R Mardis; Daniel C Link; Timothy A Graubert; John F DiPersio; Timothy J Ley
Journal:  Proc Natl Acad Sci U S A       Date:  2009-07-27       Impact factor: 11.205

8.  Personalized copy number and segmental duplication maps using next-generation sequencing.

Authors:  Can Alkan; Jeffrey M Kidd; Tomas Marques-Bonet; Gozde Aksay; Francesca Antonacci; Fereydoun Hormozdiari; Jacob O Kitzman; Carl Baker; Maika Malig; Onur Mutlu; S Cenk Sahinalp; Richard A Gibbs; Evan E Eichler
Journal:  Nat Genet       Date:  2009-08-30       Impact factor: 38.330

9.  Mouse segmental duplication and copy number variation.

Authors:  Xinwei She; Ze Cheng; Sebastian Zöllner; Deanna M Church; Evan E Eichler
Journal:  Nat Genet       Date:  2008-05-22       Impact factor: 38.330

10.  Database resources of the National Center for Biotechnology Information.

Authors:  David L Wheeler; Tanya Barrett; Dennis A Benson; Stephen H Bryant; Kathi Canese; Vyacheslav Chetvernin; Deanna M Church; Michael Dicuccio; Ron Edgar; Scott Federhen; Michael Feolo; Lewis Y Geer; Wolfgang Helmberg; Yuri Kapustin; Oleg Khovayko; David Landsman; David J Lipman; Thomas L Madden; Donna R Maglott; Vadim Miller; James Ostell; Kim D Pruitt; Gregory D Schuler; Martin Shumway; Edwin Sequeira; Steven T Sherry; Karl Sirotkin; Alexandre Souvorov; Grigory Starchenko; Roman L Tatusov; Tatiana A Tatusova; Lukas Wagner; Eugene Yaschenko
Journal:  Nucleic Acids Res       Date:  2007-11-27       Impact factor: 16.971
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  38 in total

Review 1.  Bioinformatics for personal genome interpretation.

Authors:  Emidio Capriotti; Nathan L Nehrt; Maricel G Kann; Yana Bromberg
Journal:  Brief Bioinform       Date:  2012-01-13       Impact factor: 11.622

2.  Looking back and moving forward: an historical perspective from laboratory genetic counselors.

Authors:  Lindsay H Zetzsche; Katrina E Kotzer; Karen E Wain
Journal:  J Genet Couns       Date:  2013-11-12       Impact factor: 2.537

3.  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

Review 4.  A copy number variation map of the human genome.

Authors:  Mehdi Zarrei; Jeffrey R MacDonald; Daniele Merico; Stephen W Scherer
Journal:  Nat Rev Genet       Date:  2015-02-03       Impact factor: 53.242

Review 5.  Copy number variation in the cattle genome.

Authors:  George E Liu; Derek M Bickhart
Journal:  Funct Integr Genomics       Date:  2012-07-13       Impact factor: 3.410

6.  The laboratory-clinician team: a professional call to action to improve communication and collaboration for optimal patient care in chromosomal microarray testing.

Authors:  Karen E Wain; Erin Riggs; Karen Hanson; Melissa Savage; Darlene Riethmaier; Andrea Muirhead; Elyse Mitchell; Bethanny Smith Packard; W Andrew Faucett
Journal:  J Genet Couns       Date:  2012-05-18       Impact factor: 2.537

7.  Diagnostic interpretation of array data using public databases and internet sources.

Authors:  Nicole de Leeuw; Trijnie Dijkhuizen; Jayne Y Hehir-Kwa; Nigel P Carter; Lars Feuk; Helen V Firth; Robert M Kuhn; David H Ledbetter; Christa Lese Martin; Conny M A van Ravenswaaij-Arts; Steven W Scherer; Soheil Shams; Steven Van Vooren; Rolf Sijmons; Morris Swertz; Ros Hastings
Journal:  Hum Mutat       Date:  2012-06       Impact factor: 4.878

Review 8.  Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance.

Authors:  Aquillah M Kanzi; James Emmanuel San; Benjamin Chimukangara; Eduan Wilkinson; Maryam Fish; Veron Ramsuran; Tulio de Oliveira
Journal:  Front Genet       Date:  2020-10-23       Impact factor: 4.599

9.  The 1000 Genomes Project: data management and community access.

Authors:  Laura Clarke; Xiangqun Zheng-Bradley; Richard Smith; Eugene Kulesha; Chunlin Xiao; Iliana Toneva; Brendan Vaughan; Don Preuss; Rasko Leinonen; Martin Shumway; Stephen Sherry; Paul Flicek
Journal:  Nat Methods       Date:  2012-04-27       Impact factor: 28.547

Review 10.  Genome structural variation discovery and genotyping.

Authors:  Can Alkan; Bradley P Coe; Evan E Eichler
Journal:  Nat Rev Genet       Date:  2011-03-01       Impact factor: 53.242
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