基本説明
Reprint of: Cytogenetic and Genome Researcj 2011, Vol. 135, No. 3-4.
Full Description
The introduction of genome-wide array platforms a decade ago has truly revolutionized clinical cytogenetics. The use of these techniques has widened the spectrum of the human genomic variation detected and presented both, unprecedented opportunities as well as challenges. This special issue of Cytogenetic and Genome Research describes the variety of tools used and deals with the challenges relating to the clinical diagnostic implementation of genome-wide array technologies. Furthermore it provides a current overview of the genome-wide array revolution in clinical cytogenetics with an emphasis on approaches to turn discoveries of novel structural genome rearrangements into diagnostically relevant results. This publication will be of benefit to clinical geneticists, general pediatricians and scientists interested in the field of fundamental and clinically applied genetics and genomics.
Contents
Preface: Poot, M.; Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research: Hochstenbach, R.; Buizer-Voskamp, J.E.; Vorstman, J.A.S.; Ophoff, R.A.; Clinical Laboratory Implementation of Cytogenomic Microarrays: South, S.T.; Brothman, A.R.; SNP Array Analysis in Constitutional and Cancer Genome Diagnostics - Copy Number Variants, Genotyping and Quality Control: de Leeuw, N.; Hehir-Kwa, J.Y.; Simons, A.; Geurts van Kessel, A.; Smeets, D.F.; Faas, B.H.W.; Pfundt, R.; Interpretation of Array Comparative Genome Hybridization Data: A Major Challenge: Gijsbers, A.C.J.; Schoumans, J.; Ruivenkamp, C.A.L.; Disentangling the Myriad Genomics of Complex Disorders, Specifically Focusing on Autism, Epilepsy, and Schizophrenia: Poot, M.; van der Smagt, J.J.; Brilstra, E.H.; Bourgeron, T.; From Karyotyping to Array-CGH in Prenatal Diagnosis: Lichtenbelt, K.D.; Knoers, N.V.A.M.; Schuring-Blom, G.H.; Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects: Breckpot, J.; Thienpont, B.; Arens, Y.; Tranchevent, L.C.; Vermeesch, J.R.; Moreau, Y.; Gewillig, M.; Devriendt, K.; Array CGH in Human Leukemia: From Somatics to Genetics: van der Veken, L.T.; Buijs, A.; Origins and Breakpoint Analyses of Copy Number Variations: Up Close and Personal: van Binsbergen, E.; Functional Enrichment Analysis with Structural Variants: Pitfalls and Strategies: Webber, C.; Author Index.
