Current Protocols in Human Genetics

  1934-8266

  1934-8258

  Mỹ

Cơ quản chủ quản:  John Wiley & Sons Inc.

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Medicine (miscellaneous)GeneticsGenetics (clinical)

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Sound and reproducible laboratory methods are the foundation of scientific discovery. Yet, all too often, nuances that are critical for an experiment’s success are not captured in the primary literature but exist only as part of a lab’s oral tradition. The aim of each Current Protocols title is to provide the clearest, most detailed and reliable step-by-step instructions for all protocols relevant to a given subject area. Written by experts in the field and extensively edited to our exacting standards, the protocols include all of the information necessary to complete an experiment in the laboratory—introduction, materials lists with supplier information, detailed step-by-step procedures with helpful annotations, recipes for reagents and solutions, illustrative figures and information-packed tables. Each article also provides invaluable discussions of background information, applications of the methods, important assumptions, key parameters, time considerations, and tips to help avoid common pitfalls and troubleshoot experiments. Furthermore, Current Protocols content is thoughtfully organized by topic for optimal usage and to maximize contextual knowledge. Quarterly issues allow Current Protocols to constantly evolve to keep pace with the newest discoveries and developments. Current Protocols in Human Genetics is the comprehensive resource for all types of research and clinical laboratory approaches pertaining to human genetics. Current Protocols in Human Genetics brings together hundreds of core and cutting edge techniques in all branches of genetics including: Genetic Mapping Genotyping Cytogenetics Identifying Candidate Genes Identifying Sequence Variants Clinical Cytogenetics Clinical Molecular Genetics Cancer Genetics Transcriptional Profiling Gene Therapy Forensic Genetics Model Systems for the Analysis of Human Disease Biochemical Genetics High‐Throughput Sequencing Mitochondrial Genetics Epigenetics iPS Cell Models.

Các bài báo tiêu biểu

Analysis of Oxidative Damage by Gene‐Specific Quantitative PCR
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)
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.