Literature DB >> 19737800

Comparing CNV detection methods for SNP arrays.

Laura Winchester1, Christopher Yau, Jiannis Ragoussis.   

Abstract

Data from whole genome association studies can now be used for dual purposes, genotyping and copy number detection. In this review we discuss some of the methods for using SNP data to detect copy number events. We examine a number of algorithms designed to detect copy number changes through the use of signal-intensity data and consider methods to evaluate the changes found. We describe the use of several statistical models in copy number detection in germline samples. We also present a comparison of data using these methods to assess accuracy of prediction and detection of changes in copy number.

Mesh:

Year:  2009        PMID: 19737800     DOI: 10.1093/bfgp/elp017

Source DB:  PubMed          Journal:  Brief Funct Genomic Proteomic        ISSN: 1473-9550


  106 in total

1.  Identification of germline genomic copy number variation in familial pancreatic cancer.

Authors:  Wigdan Al-Sukhni; Sarah Joe; Anath C Lionel; Nora Zwingerman; George Zogopoulos; Christian R Marshall; Ayelet Borgida; Spring Holter; Aaron Gropper; Sara Moore; Melissa Bondy; Alison P Klein; Gloria M Petersen; Kari G Rabe; Ann G Schwartz; Sapna Syngal; Stephen W Scherer; Steven Gallinger
Journal:  Hum Genet       Date:  2012-06-05       Impact factor: 4.132

2.  Lessons from a decade of integrating cancer copy number alterations with gene expression profiles.

Authors:  Norman Huang; Parantu K Shah; Cheng Li
Journal:  Brief Bioinform       Date:  2011-09-23       Impact factor: 11.622

3.  Copy number variation of individual cattle genomes using next-generation sequencing.

Authors:  Derek M Bickhart; Yali Hou; Steven G Schroeder; Can Alkan; Maria Francesca Cardone; Lakshmi K Matukumalli; Jiuzhou Song; Robert D Schnabel; Mario Ventura; Jeremy F Taylor; Jose Fernando Garcia; Curtis P Van Tassell; Tad S Sonstegard; Evan E Eichler; George E Liu
Journal:  Genome Res       Date:  2012-02-02       Impact factor: 9.043

4.  Precise inference of copy number alterations in tumor samples from SNP arrays.

Authors:  Gary K Chen; Xiao Chang; Christina Curtis; Kai Wang
Journal:  Bioinformatics       Date:  2013-09-09       Impact factor: 6.937

5.  Copy number variation accuracy in genome-wide association studies.

Authors:  Peng Lin; Sarah M Hartz; Jen-Chyong Wang; Robert F Krueger; Tatiana M Foroud; Howard J Edenberg; John I Nurnberger; Andrew I Brooks; Jay A Tischfield; Laura Almasy; Bradley T Webb; Victor M Hesselbrock; Bernice Porjesz; Alison M Goate; Laura J Bierut; John P Rice
Journal:  Hum Hered       Date:  2011-07-20       Impact factor: 0.444

6.  A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer.

Authors:  C Fernandez-Rozadilla; J B Cazier; I Tomlinson; A Brea-Fernández; M J Lamas; M Baiget; L A López-Fernández; J Clofent; L Bujanda; D Gonzalez; L de Castro; K Hemminki; X Bessa; M Andreu; R Jover; R Xicola; X Llor; V Moreno; A Castells; S Castellví-Bel; A Carracedo; C Ruiz-Ponte
Journal:  Hum Genet       Date:  2013-11-12       Impact factor: 4.132

7.  Increased CNV-region deletions in mild cognitive impairment (MCI) and Alzheimer's disease (AD) subjects in the ADNI sample.

Authors:  Guia Guffanti; Federica Torri; Jerod Rasmussen; Andrew P Clark; Anita Lakatos; Jessica A Turner; James H Fallon; Andrew J Saykin; Michael Weiner; Marquis P Vawter; James A Knowles; Steven G Potkin; Fabio Macciardi
Journal:  Genomics       Date:  2013-04-11       Impact factor: 5.736

8.  Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.

Authors:  Virpi M Leppa; Stephanie N Kravitz; Christa Lese Martin; Joris Andrieux; Cedric Le Caignec; Dominique Martin-Coignard; Christina DyBuncio; Stephan J Sanders; Jennifer K Lowe; Rita M Cantor; Daniel H Geschwind
Journal:  Am J Hum Genet       Date:  2016-08-25       Impact factor: 11.025

9.  R-Gada: a fast and flexible pipeline for copy number analysis in association studies.

Authors:  Roger Pique-Regi; Alejandro Cáceres; Juan R González
Journal:  BMC Bioinformatics       Date:  2010-07-16       Impact factor: 3.169

10.  CNVineta: a data mining tool for large case-control copy number variation datasets.

Authors:  Michael Wittig; Ingo Helbig; Stefan Schreiber; Andre Franke
Journal:  Bioinformatics       Date:  2010-07-06       Impact factor: 6.937

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