Current Protocols in Human Genetics

Current Protocols in Human Genetics

Online ISBN: 9780471142904

DOI: 10.1002/0471142905

Mission Statement

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
  • Valuable appendices, including commonly used techniques, recipes, and more

The target audience for Current Protocols in Human Genetics includes anyone interested in conducting research in genetics. Sufficient detail is provided to permit duplication of the protocols in any laboratory, whatever the disciplinary background and level of sophistication.


Geneticists • molecular biologists • cytogeneticists • population geneticists • clinical biochemical geneticists• gene therapy researchers • molecular forensic scientists


Genetics, medical genetics, cytogenetics, chromosome, genetic testing, clinical genetics, biochemical genetics, cancer genetics, clinical molecular genetics, molecular cytogenetics, molecular forensics, gene therapy, model organisms, mapping, laboratory protocols, Current Protocols


While the authors, editors, and publisher believe that the specification and usage of reagents, equipment, and devices, as set forth in this book, are in accord with current recommendations and practice at the time of publication, they accept no legal responsibility for any errors or omissions, and make no warranty, express or implied, with respect to material contained herein. In view of ongoing research, equipment modifications, changes in governmental regulations, and the constant flow of information relating to the use of experimental reagents, equipment, and devices, the reader is urged to review and evaluate the information provided in the package insert or instructions for each chemical, piece of equipment, reagent, or device for, among other things, any changes in the instructions or indication of usage and for added warnings and precautions. This is particularly important in regard to new or infrequently employed chemicals or experimental reagents. Moreover, the information presented herein is not a substitute for professional judgment, especially as concerns any applications in a clinical setting or the interpretation of results thereby obtained.