Literature DB >> 19774103

Statistical issues in the analysis of DNA Copy Number Variations.

Nathan E Wineinger1, Richard E Kennedy, Stephen W Erickson, Mary K Wojczynski, Carl E Bruder, Hemant K Tiwari.   

Abstract

Approaches to assess copy number variation have advanced rapidly and are being incorporated into genetic studies. While the technology exists for CNV genotyping, a further understanding and discussion of how to use the CNV data for association analyses is warranted. We present the options available for processing and analysing CNV data. We break these steps down into choice of genotyping platform, normalisation of the array data, calling algorithm, and statistical analysis.

Keywords:  CBS; DNA; GWAS; array CGH; calling algorithm; circular binary segmentation; complex disorders; copy number; genome-wide association study; hidden Markov model; microarray; normalization; whole genome amplification

Mesh:

Substances:

Year:  2008        PMID: 19774103      PMCID: PMC2747762          DOI: 10.1504/IJCBDD.2008.022208

Source DB:  PubMed          Journal:  Int J Comput Biol Drug Des        ISSN: 1756-0756


  86 in total

1.  Inference of population structure using multilocus genotype data.

Authors:  J K Pritchard; M Stephens; P Donnelly
Journal:  Genetics       Date:  2000-06       Impact factor: 4.562

2.  A human genome diversity cell line panel.

Authors:  Howard M Cann; Claudia de Toma; Lucien Cazes; Marie-Fernande Legrand; Valerie Morel; Laurence Piouffre; Julia Bodmer; Walter F Bodmer; Batsheva Bonne-Tamir; Anne Cambon-Thomsen; Zhu Chen; J Chu; Carlo Carcassi; Licinio Contu; Ruofu Du; Laurent Excoffier; G B Ferrara; Jonathan S Friedlaender; Helena Groot; David Gurwitz; Trefor Jenkins; Rene J Herrera; Xiaoyi Huang; Judith Kidd; Kenneth K Kidd; Andre Langaney; Alice A Lin; S Qasim Mehdi; Peter Parham; Alberto Piazza; Maria Pia Pistillo; Yaping Qian; Qunfang Shu; Jiujin Xu; S Zhu; James L Weber; Henry T Greely; Marcus W Feldman; Gilles Thomas; Jean Dausset; L Luca Cavalli-Sforza
Journal:  Science       Date:  2002-04-12       Impact factor: 47.728

3.  Principal components analysis corrects for stratification in genome-wide association studies.

Authors:  Alkes L Price; Nick J Patterson; Robert M Plenge; Michael E Weinblatt; Nancy A Shadick; David Reich
Journal:  Nat Genet       Date:  2006-07-23       Impact factor: 38.330

Review 4.  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

5.  Detection of gene copy number changes in CGH microarrays using a spatially correlated mixture model.

Authors:  Philippe Broët; Sylvia Richardson
Journal:  Bioinformatics       Date:  2006-02-02       Impact factor: 6.937

6.  Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances.

Authors:  S Solinas-Toldo; S Lampel; S Stilgenbauer; J Nickolenko; A Benner; H Döhner; T Cremer; P Lichter
Journal:  Genes Chromosomes Cancer       Date:  1997-12       Impact factor: 5.006

7.  Strong association of de novo copy number mutations with autism.

Authors:  Jonathan Sebat; B Lakshmi; Dheeraj Malhotra; Jennifer Troge; Christa Lese-Martin; Tom Walsh; Boris Yamrom; Seungtai Yoon; Alex Krasnitz; Jude Kendall; Anthony Leotta; Deepa Pai; Ray Zhang; Yoon-Ha Lee; James Hicks; Sarah J Spence; Annette T Lee; Kaija Puura; Terho Lehtimäki; David Ledbetter; Peter K Gregersen; Joel Bregman; James S Sutcliffe; Vaidehi Jobanputra; Wendy Chung; Dorothy Warburton; Mary-Claire King; David Skuse; Daniel H Geschwind; T Conrad Gilliam; Kenny Ye; Michael Wigler
Journal:  Science       Date:  2007-03-15       Impact factor: 47.728

8.  High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays.

Authors:  D Pinkel; R Segraves; D Sudar; S Clark; I Poole; D Kowbel; C Collins; W L Kuo; C Chen; Y Zhai; S H Dairkee; B M Ljung; J W Gray; D G Albertson
Journal:  Nat Genet       Date:  1998-10       Impact factor: 38.330

9.  Power and type I error rate of false discovery rate approaches in genome-wide association studies.

Authors:  Qiong Yang; Jing Cui; Irmarie Chazaro; L Adrienne Cupples; Serkalem Demissie
Journal:  BMC Genet       Date:  2005-12-30       Impact factor: 2.797

10.  Large recurrent microdeletions associated with schizophrenia.

Authors:  Hreinn Stefansson; Dan Rujescu; Sven Cichon; Olli P H Pietiläinen; Andres Ingason; Stacy Steinberg; Ragnheidur Fossdal; Engilbert Sigurdsson; Thordur Sigmundsson; Jacobine E Buizer-Voskamp; Thomas Hansen; Klaus D Jakobsen; Pierandrea Muglia; Clyde Francks; Paul M Matthews; Arnaldur Gylfason; Bjarni V Halldorsson; Daniel Gudbjartsson; Thorgeir E Thorgeirsson; Asgeir Sigurdsson; Adalbjorg Jonasdottir; Aslaug Jonasdottir; Asgeir Bjornsson; Sigurborg Mattiasdottir; Thorarinn Blondal; Magnus Haraldsson; Brynja B Magnusdottir; Ina Giegling; Hans-Jürgen Möller; Annette Hartmann; Kevin V Shianna; Dongliang Ge; Anna C Need; Caroline Crombie; Gillian Fraser; Nicholas Walker; Jouko Lonnqvist; Jaana Suvisaari; Annamarie Tuulio-Henriksson; Tiina Paunio; Timi Toulopoulou; Elvira Bramon; Marta Di Forti; Robin Murray; Mirella Ruggeri; Evangelos Vassos; Sarah Tosato; Muriel Walshe; Tao Li; Catalina Vasilescu; Thomas W Mühleisen; August G Wang; Henrik Ullum; Srdjan Djurovic; Ingrid Melle; Jes Olesen; Lambertus A Kiemeney; Barbara Franke; Chiara Sabatti; Nelson B Freimer; Jeffrey R Gulcher; Unnur Thorsteinsdottir; Augustine Kong; Ole A Andreassen; Roel A Ophoff; Alexander Georgi; Marcella Rietschel; Thomas Werge; Hannes Petursson; David B Goldstein; Markus M Nöthen; Leena Peltonen; David A Collier; David St Clair; Kari Stefansson
Journal:  Nature       Date:  2008-09-11       Impact factor: 49.962

View more
  17 in total

1.  A novel signal processing approach for the detection of copy number variations in the human genome.

Authors:  Catherine Stamoulis; Rebecca A Betensky
Journal:  Bioinformatics       Date:  2011-07-12       Impact factor: 6.937

2.  Characterization of autosomal copy-number variation in African Americans: the HyperGEN Study.

Authors:  Nathan E Wineinger; Nicholas M Pajewski; Richard E Kennedy; Mary K Wojczynski; Laura K Vaughan; Steven C Hunt; C Charles Gu; Dabeeru C Rao; Rachel Lorier; Ulrich Broeckel; Donna K Arnett; Hemant K Tiwari
Journal:  Eur J Hum Genet       Date:  2011-06-15       Impact factor: 4.246

3.  Inheritance model introduces differential bias in CNV calls between parents and offspring.

Authors:  Sulgi Kim; Steven P Millard; Chang-En Yu; Lesley Leong; Allen Radant; Dorcas Dobie; Debby W Tsuang; Ellen M Wijsman
Journal:  Genet Epidemiol       Date:  2012-05-24       Impact factor: 2.135

4.  Unified methods for feature selection in large-scale genomic studies with censored survival outcomes.

Authors:  Lauren Spirko-Burns; Karthik Devarajan
Journal:  Bioinformatics       Date:  2020-06-01       Impact factor: 6.937

5.  Using family data as a verification standard to evaluate copy number variation calling strategies for genetic association studies.

Authors:  Xiaojing Zheng; John R Shaffer; Caitlin P McHugh; Cathy C Laurie; Bjarke Feenstra; Mads Melbye; Jeffrey C Murray; Mary L Marazita; Eleanor Feingold
Journal:  Genet Epidemiol       Date:  2012-04       Impact factor: 2.135

6.  Optimization of Signal Decomposition Matched Filtering (SDMF) for Improved Detection of Copy-Number Variations.

Authors:  Catherine Stamoulis; Rebecca A Betensky
Journal:  IEEE/ACM Trans Comput Biol Bioinform       Date:  2016 May-Jun       Impact factor: 3.710

7.  Percutaneous image-guided biopsy of prostate cancer metastases yields samples suitable for genomics and personalised oncology.

Authors:  Matthew K H Hong; Nikhil Sapre; Pramit M Phal; Geoff Macintyre; Xiaowen Chin; John S Pedersen; Andrew Ryan; Michael Kerger; Anthony J Costello; Niall M Corcoran; Christopher M Hovens
Journal:  Clin Exp Metastasis       Date:  2013-10-02       Impact factor: 5.150

8.  Genomic copy number variants: evidence for association with antibody response to anthrax vaccine adsorbed.

Authors:  Michael I Falola; Howard W Wiener; Nathan E Wineinger; Gary R Cutter; Robert P Kimberly; Jeffrey C Edberg; Donna K Arnett; Richard A Kaslow; Jianming Tang; Sadeep Shrestha
Journal:  PLoS One       Date:  2013-05-31       Impact factor: 3.240

9.  Single-cell copy number variation detection.

Authors:  Jiqiu Cheng; Evelyne Vanneste; Peter Konings; Thierry Voet; Joris R Vermeesch; Yves Moreau
Journal:  Genome Biol       Date:  2011-08-29       Impact factor: 13.583

10.  The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation.

Authors:  Armand Valsesia; Aurélien Macé; Sébastien Jacquemont; Jacques S Beckmann; Zoltán Kutalik
Journal:  Front Genet       Date:  2013-05-30       Impact factor: 4.599

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.