Novel applications of array comparative genomic hybridization in molecular diagnostics

Expert Review of Molecular Diagnostics
Sau W Cheung, Weimin Bi

Abstract

In 2004, the implementation of array comparative genomic hybridization (array comparative genome hybridization [CGH]) into clinical practice marked a new milestone for genetic diagnosis. Array CGH and single-nucleotide polymorphism (SNP) arrays enable genome-wide detection of copy number changes in a high resolution, and therefore microarray has been recognized as the first-tier test for patients with intellectual disability or multiple congenital anomalies, and has also been applied prenatally for detection of clinically relevant copy number variations in the fetus. Area covered: In this review, the authors summarize the evolution of array CGH technology from their diagnostic laboratory, highlighting exonic SNP arrays developed in the past decade which detect small intragenic copy number changes as well as large DNA segments for the region of heterozygosity. The applications of array CGH to human diseases with different modes of inheritance with the emphasis on autosomal recessive disorders are discussed. Expert commentary: An exonic array is a powerful and most efficient clinical tool in detecting genome wide small copy number variants in both dominant and recessive disorders. However, whole-genome sequencing may become the s...Continue Reading

References

Dec 31, 1997·Genes, Chromosomes & Cancer·S Solinas-ToldoP Lichter
Mar 10, 2001·Nature·E S LanderUNKNOWN International Human Genome Sequencing Consortium
Nov 1, 2001·Nature Genetics·A M SnijdersD G Albertson
Mar 30, 2002·Nature Biotechnology·Wei-Wen CaiAllan Bradley
Jun 22, 2002·Current Opinion in Genetics & Development·Pawel Stankiewicz, James R Lupski
May 20, 2003·Human Mutation·Alexander N YatsenkoJames R Lupski
Jun 28, 2003·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Kiran K MantripragadaJan P Dumanski
Feb 27, 2004·Journal of Medical Genetics·D P LockeE E Eichler
Jun 3, 2004·Journal of Medical Genetics·J A VeltmanE F P M Schoenmakers
Jan 31, 2006·PLoS Genetics·James R Lupski, Pawel Stankiewicz
Jul 1, 2006·Genome Research·Jennifer L FreemanCharles Lee
Dec 19, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Daniela del GaudioBenjamin B Roa
Sep 5, 2007·Nature Genetics·James R Lupski
Sep 5, 2007·Nature Genetics·Charles LeeArthur R Brothman
Oct 3, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·David H Ledbetter, Christa Lese Martin
Jan 30, 2008·Nature Reviews. Genetics·Andrés Aguilera, Belén Gómez-González
Jul 30, 2008·American Journal of Medical Genetics. Part a·Lina ShaoSau W Cheung
Dec 23, 2008·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Lawrence R ShiowJennifer M Puck
Jun 30, 2009·Trends in Genetics : TIG·Feng ZhangJames R Lupski
Sep 3, 2009·Biochemical and Biophysical Research Communications·Juan Rodriguez-Paris, Iris Schrijver
Feb 27, 2010·American Journal of Medical Genetics. Part a·S U DharT Sahoo
Sep 18, 2010·Human Mutation·Philip M BoonePawel Stankiewicz
Oct 6, 2010·Journal of Medical Genetics·Nuria Rivera-BruguésMaja Hempel
May 20, 2011·American Journal of Medical Genetics. Part a·Peter PapenhausenJames Tepperberg
Jun 18, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Hutton M KearneyUNKNOWN Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee
Oct 4, 2011·American Journal of Medical Genetics. Part a·Victoria HarrisonEdward Blair
Jan 10, 2012·Methods in Molecular Biology·Lisenka E L M Vissers, Paweł Stankiewicz

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Citations

Jan 17, 2020·Expert Review of Neurotherapeutics·Marcello ScalaPasquale Striano
Jul 10, 2020·Clinical Oral Investigations·C DubucsJulie Plaisancié
Nov 6, 2018·Mutation Research. Genetic Toxicology and Environmental Mutagenesis·Adayabalam S Balajee, M Prakash Hande

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