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Current Protocols in Human Genetics

Current Protocols in Human Genetics

Last Update: July 01, 2016
Print ISSN: 1934-8266
Online ISSN: 1934-8258

Overview

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What's New in Current Protocols in Human Genetics
Supplement 90, July 2016

Unit 2.14 Quality Control for the Illumina HumanExome BeadChip
         Abstract | Full Text:  HTML   PDF

Unit 7.13 Sequence Variant Descriptions: HGVS Nomenclature and Mutalyzer
         Abstract | Full Text:  HTML   PDF

Unit 15.9 Engineering Large Animal Species to Model Human Diseases
         Abstract | Full Text:  HTML   PDF

Unit 17.22 Fabry Disease Biomarkers: Analysis of Urinary Lyso-Gb3 and Seven Related Analogs Using Tandem Mass Spectrometry
         Abstract | Full Text:  HTML   PDF

Unit 17.23 Tandem Mass Spectrometry Quantitation of Lyso-Gb3 and Six Related Analogs in Plasma for Fabry Disease Patients
         Abstract | Full Text:  HTML   PDF

Unit 20.3 Integrative Analysis of Histone ChIP-seq and RNA-seq Data
         Abstract | Full Text:  HTML   PDF

Unit 21.5 Efficient Generation of Hypothalamic Neurons from Human Pluripotent Stem Cells
         Abstract | Full Text:  HTML   PDF

Current Protocols in Human Genetics is the resource for designing and running successful research projects in all branches of human genetics.

A subscription gives you access to all the content in the collection plus four quarterly issues of new and updated content. Current Protocols in Human Genetics ...

  • features methods in all areas of genetic research, including disease study, expression analysis, clinical genetics, analysis of sequence variants, cytogenetics, gene therapy, forensic genetics, biochemical genetics and more
  • offers basic to sophisticated methods— many of them equally applicable to other eukaryotic organisms, such as the mouse
  • provides valuable appendices, such as "Commonly Used Techniques" which includes molecular biology and cell culture methods, basic mouse handling techniques, basic statistics.

Edited by: Jonathan L. Haines (Case Western Reserve University School of Medicine); Bruce R. Korf (University of Alabama at Birmingham); Cynthia C. Morton (Brigham and Women's Hospital and Harvard Medical School); Christine E. Seidman (Brigham and Women's Hospital and Harvard Medical School); J.G. Seidman (Harvard Medical School); Douglas R. Smith (Courtagen Life Sciences); Guest Editors: J. Daniel Sharer (UAB Biochemical Genetics and Metabolic Disease Laboratory); Theresa V. Strong (University of Alabama at Birmingham); Past Editors: Nicholas C. Dracopoli (Bristol-Myers Squibb); Donald T. Moir (Microbiotix, Inc.); Anthony Rosenzweig (Beth Israel Deaconess Medical Center and Harvard Medical School)

Developmental Editor: Ann Boyle

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.