Large Scale Genome Variation in Health and Disease: Reprint of: Cytogenetic and Genome Research 2006, Vol. 115, No. 3-4 - Hardcover

Hardcover

ISBN 10: 3805582218 ISBN 13: 9783805582216

Verlag: Karger, S, 2006

Inhaltsangabe

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.

Details zur Ausgabe

• Verlag: Karger, S
• Erscheinungsdatum: 2006
• Sprache: Englisch
• ISBN 10: 3805582218
• ISBN 13: 9783805582216
• Einband: Gebundene Ausgabe
• Auflage: 1
• Anzahl der Seiten: 118
• Herausgeber: Geurts Van Kessel A.
• Kontakt zum Hersteller: Nicht verfügbar
• Verantwortliche Person: Nicht verfügbar