Literature DB >> 18972373

Use of Affymetrix mapping arrays in the diagnosis of gene copy number variation.

Allen D Delaney1, Hong Qian, Jan M Friedman, Marco A Marra.   

Abstract

Diagnosing constitutional pathogenic copy number variants requires measuring the submicroscopic segmental chromosomal imbalance. The Affymetrix GeneChip mapping array has been used to measure duplication and deletion of genetic material in DNA samples. This protocol describes the measurement and analysis processes, specifically the computational analyses that are involved in identifying pathogenic copy number variants. Copyright 2008 by John Wiley & Sons, Inc.

Mesh：

Year:  2008        PMID： 18972373     DOI： 10.1002/0471142905.hg0813s59

Source DB:  PubMed          Journal:  Curr Protoc Hum Genet        ISSN： 1934-8258


  5 in total

1.  A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect.

Authors:  Hatem Zayed; Ryan Chao; Ali Moshrefi; Nelson Lopezjimenez; Allen Delaney; Justin Chen; Gary M Shaw; Anne M Slavotinek
Journal:  Am J Med Genet A       Date:  2010-04       Impact factor: 2.802

2.  Molecular cytogenetic analysis of telomere rearrangements.

Authors:  Christa Lese Martin; David H Ledbetter
Journal:  Curr Protoc Hum Genet       Date:  2015-01-20

3.  A male with unilateral microphthalmia reveals a role for TMX3 in eye development.

Authors:  Ryan Chao; Linda Nevin; Pooja Agarwal; Jan Riemer; Xiaoyang Bai; Allen Delaney; Matthew Akana; Nelson JimenezLopez; Tanya Bardakjian; Adele Schneider; Nicolas Chassaing; Daniel F Schorderet; David FitzPatrick; Pui-yan Kwok; Lars Ellgaard; Douglas B Gould; Yan Zhang; Jarema Malicki; Herwig Baier; Anne Slavotinek
Journal:  PLoS One       Date:  2010-05-11       Impact factor: 3.240

4.  Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin.

Authors:  Ryan D Morin; Nathalie A Johnson; Tesa M Severson; Andrew J Mungall; Jianghong An; Rodrigo Goya; Jessica E Paul; Merrill Boyle; Bruce W Woolcock; Florian Kuchenbauer; Damian Yap; R Keith Humphries; Obi L Griffith; Sohrab Shah; Henry Zhu; Michelle Kimbara; Pavel Shashkin; Jean F Charlot; Marianna Tcherpakov; Richard Corbett; Angela Tam; Richard Varhol; Duane Smailus; Michelle Moksa; Yongjun Zhao; Allen Delaney; Hong Qian; Inanc Birol; Jacqueline Schein; Richard Moore; Robert Holt; Doug E Horsman; Joseph M Connors; Steven Jones; Samuel Aparicio; Martin Hirst; Randy D Gascoyne; Marco A Marra
Journal:  Nat Genet       Date:  2010-01-17       Impact factor: 38.330

5.  Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.

Authors:  Jm Friedman; Shelin Adam; Laura Arbour; Linlea Armstrong; Agnes Baross; Patricia Birch; Cornelius Boerkoel; Susanna Chan; David Chai; Allen D Delaney; Stephane Flibotte; William T Gibson; Sylvie Langlois; Emmanuelle Lemyre; H Irene Li; Patrick MacLeod; Joan Mathers; Jacques L Michaud; Barbara C McGillivray; Millan S Patel; Hong Qian; Guy A Rouleau; Margot I Van Allen; Siu-Li Yong; Farah R Zahir; Patrice Eydoux; Marco A Marra
Journal:  BMC Genomics       Date:  2009-11-16       Impact factor: 3.969
  5 in total

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