Full Description
Until recently variation in the human genome was thought to be restricted mainly to so-called single nucleotide polymorphisms. However, it has become clear that large scale DNA copy number variations (CNVs) are much more common than initially expected. It is widely assumed now, and has been shown in some cases, that (cryptic) CNVs may be associated with diseases such as congenital malformation, neurocognitive and/or mental retardation syndromes as well as several malignant disorders. This special issue discusses these newly identified large scale genome variations as to whether they may act as harmless bystanders or not. It also suggests how to employ this novel information for the delineation of genotype-phenotype associations, disease gene identification and, ultimately, clinical practice including diagnosis, prognosis and treatment. Investigators in clinical genetics, pathology, oncology and genomics will find this book to be a valuable source of current knowledge.
Contents
Preface: Geurts van Kessel, A.; Historical development of analysing large-scale changes in the human genome: Pearson, P.L.; Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome: Zhang, J.; Feuk, L.; Duggan, G.E.; Khaja, R.; Scherer, S.W.; Idiopathic learning disability and genome imbalance: Knight, S.J.L.; Regan, R.; Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation: de Ravel, T.J.L.; Balikova, I.; Thienpont, B.; Hannes, F.; Maas, N.; Fryns, J.-P.; Devriendt, K.; Vermeesch, J.R.; Cytogenetic genotype-phenotype studies: Improving genotyping, phenotyping and data storage: Feenstra, I.; Brunner, H.G.; van Ravenswaaij, C.M.A.; Copy number variation in the genome; the human DMD gene as an example: White, S.J.; den Dunnen, J.T.; Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation: Erdogan, F.; Chen, W.; Kirchhoff, M.; Kalscheuer, V.M.; Hultschig, C.; Muller, I.; Schulz, R.; Menzel, C.; Bryndorf, T.; Ropers, H.-H.; Ullmann, R.; Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations: Krepischi-Santos, A.C.V.; Vianna-Morgante, A.M.; Jehee, F.S.; Passos-Bueno, M.R.; Knijnenburg, J.; Szuhal, K.; Sloos, W.; Mazzeu, J.F.; Kok, F.; Cheroki, C.; Otto, P.A.; Mingroni-Netto, R.C.; Varela, M.; Koiffmann, C.; Kim, C.A.; Bertola, D.R.; Pearson, P.L.; Rosenberg, C.; Array-based comparative genomic hybridization and copy number variation in cancer research: Cho, E.K.; Tchinda, J.; Freeman, J.L.; Chung, Y.-J.; Cai, W.W.; Lee, C.; Genome wide measurement of DNA copy number changes in neuroblastoma: dissecting amplicons and mapping losses, gains and breakpoints: Michels, E.; Vandesompele, J.; Hoebeeck, J.; Menten, B.; De Preter, K.; Laureys, G.; Van Roy, N.; Speleman, F.; Gene copy number changes in dermatofibrosarcoma protuberans - a fine-resolution study using array comparative genomic hybridization: Kaur, S.; Vauhkonen, H.; Bohling, T.; Mertens, F.; Mandahl, N.; Knuutila, S.; Molecular parameters associated with insulinoma progression: chromosomal instability versus p53 and CK19 status: Jonkers, Y.M.H.; Claessen, S.M.H.; Veltman, J.A.; Geurts van Kessel, A.; Dinjens, W.N.M.; Skogseid, B.; Ramaekers, F.C.S.; Speel, E.-J.M.; Lung cancer genetics and pharmacogenomics: Joshi, V.A.; Kucherlapati, R.; Medical applications of array CGH and the transformation of clinical cytogenetics: Shaffer, L.G.; Bejjani, B.A.; Author Index.
