Current Protocols in Human Genetics

Công bố khoa học tiêu biểu

Sắp xếp:  
Analysis of Oxidative Damage by Gene‐Specific Quantitative PCR
Current Protocols in Human Genetics - Tập 62 Số 1 - 2009
Olga A. Kovalenko, Janine H. Santos
AbstractThis unit describes the gene‐specific quantitative PCR‐based (QPCR) assay, which is used to measure DNA integrity of both nuclear and mitochondrial genomes based on amplification of long DNA targets. QPCR can be used to quantify the formation of DNA damage and the kinetics of DNA repair by following restoration of amplification of the target DNA over time after removal of the damaging agent. A detailed protocol to set up QPCR in any laboratory, highlighting critical parameters for successful establishment of the assay and interpretation of the results, is provided here. Advantages (e.g., the use of nanogram amounts of DNA) and limitations (e.g., the inability to define the specific type of lesion present on the DNA) of using QPCR to assay DNA damage in human cells are also described. Curr. Protoc. Hum. Genet. 62:19.1.1‐19.1.13. © 2009 by John Wiley & Sons, Inc.
The Catalogue of Somatic Mutations in Cancer (COSMIC)
Current Protocols in Human Genetics - Tập 57 Số 1 - 2008
Simon Forbes, Gurpreet Bhamra, Sally Bamford, Elisabeth Dawson, Chai Yin Kok, Jody Clements, Andrew Menzies, Joshua M. Stuart, P. Andrew Futreal, Michael R. Stratton
AbstractCOSMIC is currently the most comprehensive global resource for information on somatic mutations in human cancer, combining curation of the scientific literature with tumor resequencing data from the Cancer Genome Project at the Sanger Institute, U.K. Almost 4800 genes and 250000 tumors have been examined, resulting in over 50000 mutations available for investigation. This information can be accessed in a number of ways, the most convenient being the Web‐based system which allows detailed data mining, presenting the results in easily interpretable formats. This unit describes the graphical system in detail, elaborating an example walkthrough and the many ways that the resulting information can be thoroughly investigated by combining data, respecializing the query, or viewing the results in different ways. Alternate protocols overview the available precompiled data files available for download. Curr. Protoc. Hum. Genet. 57:10.11.1‐10.11.26. © 2008 by John Wiley & Sons, Inc.
Tổng số: 2   
  • 1