Current Protocols in Human Genetics

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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 a...... hiện toàn bộ
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 inve...... hiện toàn bộ
SNP Genotyping Using the Sequenom MassARRAY iPLEX Platform
Current Protocols in Human Genetics - Tập 60 Số 1 - 2009
Stacey B. Gabriel, Liuda Ziaugra, Diana Tabbaa
AbstractThe method for SNP genotyping described in this unit is based on the commercially available Sequenom MassARRAY platform. The assay consists of an initial locus‐specific PCR reaction, followed by single base extension using mass‐modified dideoxynucleotide terminators of an oligonucleotide primer which anneals immediately upstream of the polymorphic site of i...... hiện toàn bộ
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