Literature DB >> 22086107

Interpretation of array comparative genome hybridization data: a major challenge.

A C J Gijsbers1, J Schoumans, C A L Ruivenkamp.   

Abstract

The advent and application of high-resolution array-based comparative genome hybridization (array CGH) has led to the detection of large numbers of copy number variants (CNVs) in patients with developmental delay and/or multiple congenital anomalies as well as in healthy individuals. The notion that CNVs are also abundantly present in the normal population challenges the interpretation of the clinical significance of detected CNVs in patients. In this review we will illustrate a general clinical workflow based on our own experience that can be used in routine diagnostics for the interpretation of CNVs.
Copyright © 2011 S. Karger AG, Basel.

Entities:  

Mesh：

Year:  2011        PMID： 22086107     DOI： 10.1159/000334066

Source DB:  PubMed          Journal:  Cytogenet Genome Res        ISSN： 1424-8581            Impact factor:   1.636


  13 in total

1.  Beware of Hemizygous Deletions That May Unmask Deleterious Variants.

Authors:  M Poot
Journal:  Mol Syndromol       Date:  2012-07-05

2.  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

3.  Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.

Authors:  Isabel Marques Carreira; Susana Isabel Ferreira; Eunice Matoso; Luís Miguel Pires; José Ferrão; Ana Jardim; Alexandra Mascarenhas; Marta Pinto; Nuno Lavoura; Cláudia Pais; Patrícia Paiva; Lúcia Simões; Francisco Caramelo; Lina Ramos; Margarida Venâncio; Fabiana Ramos; Ana Beleza; Joaquim Sá; Jorge Saraiva; Joana Barbosa de Melo
Journal:  Mol Cytogenet       Date:  2015-12-30       Impact factor: 2.009

Review 4.  Human molecular cytogenetics: From cells to nucleotides.

Authors:  Mariluce Riegel
Journal:  Genet Mol Biol       Date:  2014-03       Impact factor: 1.771

5.  Chromosome microarray analysis in the investigation of children with congenital heart disease.

Authors:  Xiao-Li Wu; Ru Li; Fang Fu; Min Pan; Jin Han; Xin Yang; Yong-Ling Zhang; Fa-Tao Li; Can Liao
Journal:  BMC Pediatr       Date:  2017-05-04       Impact factor: 2.125

6.  On the spot: very local chromosomal rearrangements.

Authors:  Céline Helsmoortel; Geert Vandeweyer; R Frank Kooy
Journal:  F1000 Biol Rep       Date:  2012-11-01

7.  PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.

Authors:  Yannis J Trakadis; Caroline Buote; Jean-François Therriault; Pierre-Étienne Jacques; Hugo Larochelle; Sébastien Lévesque
Journal:  BMC Med Genomics       Date:  2014-05-12       Impact factor: 3.063

8.  Association between chromosomal aberration of COX8C and tethered spinal cord syndrome: array-based comparative genomic hybridization analysis.

Authors:  Qiu-Jiong Zhao; Shao-Cong Bai; Cheng Cheng; Ben-Zhang Tao; Le-Kai Wang; Shuang Liang; Ling Yin; Xing-Yi Hang; Ai-Jia Shang
Journal:  Neural Regen Res       Date:  2016-08       Impact factor: 5.135

Review 9.  Clinical interpretation of copy number variants in the human genome.

Authors:  Beata Nowakowska
Journal:  J Appl Genet       Date:  2017-09-30       Impact factor: 3.240

10.  A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome.

Authors:  Ilse Meerschaut; Sarah Vergult; Annelies Dheedene; Björn Menten; Katya De Groote; Hans De Wilde; Laura Muiño Mosquera; Joseph Panzer; Kristof Vandekerckhove; Paul J Coucke; Daniël De Wolf; Bert Callewaert
Journal:  Genes (Basel)       Date:  2021-07-08       Impact factor: 4.096
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