Current Protocols in Human Genetics
Online ISBN: 9780471142904
DOI: 10.1002/0471142905
Archive
Current Protocols in Human Genetics Supplements
2013: Supplement 77 Supplement 76
2012: Supplement 75 Supplement 74 Supplement 73 Supplement 72
2011: Supplement 71 Supplement 70 Supplement 69 Supplement 68
2010: Supplement 67 Supplement 66 Supplement 65 Supplement 64
2009: Supplement 63 Supplement 62 Supplement 61 Supplement 60
2008: Supplement 59 Supplement 58 Supplement 57 Supplement 56
2007: Supplement 55 Supplement 54 Supplement 53 Supplement 52
2006: Supplement 51 Supplement 50 Supplement 49 Supplement 48
2005: Supplement 47 Supplement 46 Supplement 45 Supplement 44
2004: Supplement 43 Supplement 42 Supplement 41 Supplement 40
2003: Supplement 39 Supplement 38 Supplement 37 Supplement 36
2002: Supplement 35 Supplement 34 Supplement 33 Supplement 32
2001: Supplement 31 Supplement 30 Supplement 29 Supplement 28
2000: Supplement 27 Supplement 26 Supplement 25 Supplement 24
1999: Supplement 23 Supplement 22 Supplement 21 Supplement 20
1998: Supplement 19 Supplement 18 Supplement 17 Supplement 16
1997: Supplement 15 Supplement 14 Supplement 13 Supplement 12
1996: Supplement 11 Supplement 10 Supplement 9 Supplement 8
1995: Supplement 7 Supplement 6 Supplement 5 Supplement 4
1994: Supplement 3 Supplement 2 Supplement 1 Core publication
Supplement 77, April 2013
Unit 1.24 Methods for Meta-Analysis of Genetic Data
Abstract | Full Text: HTML PDF
Unit 9.22 Whole Genome Sequencing: A Considered Approach to Clinical Implementation
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Unit 9.23 Management of Incidental Findings in Clinical Genomic Sequencing
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Unit 17.13 Diagnosing Lysosomal Storage Disorders: Fabry Disease
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Unit 20.2 Analysis of Epigenetic Modifications of DNA in Human Cells
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Supplement 76, January 2013
Unit 1.23 Overview of Admixture Mapping
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Unit 4.15 A Multifaceted FISH Approach to Study Endogenous RNAs and DNAs in Native Nuclear and Cell Structures
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Unit 7.20 Predicting Functional Effect of Human Missense Mutations Using PolyPhen-2
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Unit 9.1 Overview of Molecular Genetic Diagnosis
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Unit 17.12 Quantification of Glycosaminoglycans in Urine by Isotope-Dilution Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry
Abstract | Full Text: HTML PDF
Supplement 75, October 2012
Unit 1.8 Model-Free Tests for Genetic Linkage
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Unit 6.12 Discovery of Rare Homozygous Mutations from Studies of Consanguineous Pedigrees
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Unit 7.19 A Survey of Copy-Number Variation Detection Tools Based on High-Throughput Sequencing Data
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Unit 8.3 Preparation of Chorionic Villus Samples for Metaphase Chromosome Analysis and Chromosomal Microarray Analysis
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Unit 17.11 Diagnosing Lysosomal Storage Disorders: Pompe Disease
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Supplement 74, July 2012
Unit 1.17 Population-Based Case-Control Association Studies
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Unit 4.7 Morphology Antibody Chromosome Technique for Determining Phenotype and Genetic Status of the Same Cell
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Unit 8.4 Preparation, Culture, and Analysis of Amniotic Fluid Samples
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Unit 8.12 Oligonucleotide Microarrays for Clinical Diagnosis of Copy Number Variation and Zygosity Status
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Unit 14.7 Molecular Analysis of the Human Mitochondrial DNA Control Region for Forensic Identity Testing
Abstract | Full Text: HTML PDF
Supplement 73, April 2012
Unit 1.22 Methods for Detecting and Correcting for Population Stratification
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Unit 9.13 Searching Online Mendelian Inheritance in Man (OMIM) for Information on Genetic Loci Involved in Human Disease
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Unit 10.2 Metaphase Harvest and Cytogenetic Analysis of Malignant Hematological Specimens
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Unit 11.12 High-Throughput Multiplex Sequencing of miRNA
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Unit 18.7 Searching for Non-B DNA-Forming Motifs Using nBMST (Non-B DNA Motif Search Tool)
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Supplement 72, January 2012
Unit 1.1 Collection of Clinical and Epidemiological Data for Genetic Linkage and Association Studies
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Unit 1.10 Identifying Functional Annotation for Noncoding Genomic Sequences
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Unit 8.14 Interpretation of Genomic Copy Number Variants Using DECIPHER
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Unit 9.16 Molecular Diagnosis of Hearing Loss
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Unit 17.10 Determination of Sialylated and Neutral Oligosaccharides in Urine by Mass Spectrometry
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Supplement 71, October 2011
Unit 1.20 Strategies for Pathway Analysis from GWAS Data
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Unit 1.21 Using the PhenX Toolkit to Add Standard Measures to a Study
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Unit 6.10 Searching NCBI Databases Using Entrez
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Unit 18.6 The UCSC Genome Browser
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Unit 19.8 Next Generation Sequencing to Characterize Mitochondrial Genomic DNA Heteroplasmy
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Supplement 70, July 2011
Unit 1.14 Analysis of Gene-Gene Interactions
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Unit 17.1 An Overview of Biochemical Genetics
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Unit 17.9 Diagnosis of Copper Transport Disorders
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Appendix 1D Reporting of Diagnostic Cytogenetic Results
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Appendix 2F Testing Hygrometers Used in Cytogenetics Laboratories for Metaphase Preparation
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Supplement 69, April 2011
Unit 6.11 Disease and Phenotype Data at Ensembl
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Unit 7.18 Targeted Sequencing Using Affymetrix CustomSeq Arrays
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Unit 9.2 Quality Assurance and Quality Improvement in U.S. Clinical Molecular Genetic Laboratories
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Unit 18.5 Using the NCBI Map Viewer to Browse Genomic Sequence Data
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Supplement 68, January 2011
Unit 1.3 Strategies for Genotyping
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Unit 1.19 Control Procedures for Genome-Wide Association Studies
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Unit 19.6 Analysis of Mitochondrial DNA Point Mutation Heteroplasmy by ARMS Quantitative PCR
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Unit 19.7 Real-Time Quantitative PCR Analysis of Mitochondrial DNA Content
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Supplement 67, October 2010
Unit 2.13 CNV Analysis Using TaqMan Copy Number Assays
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Unit 8.10 Diagnosis of Cryptic Chromosomal Syndromes by Fluorescence In Situ Hybridization (FISH)
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Unit 10.4 Molecular Analysis of Gene Rearrangements and Mutations in Acute Leukemias and Myeloproliferative Neoplasms
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Appendix 1D Reporting of Diagnostic Cytogenetic Results
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Supplement 66, July 2010
Unit 1.16 Informed Consent for Genetic Research
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Unit 9.21 The Application of Computer-Based Tools in Obtaining the Genetic Family History
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Unit 18.3 Targeted Enrichment of Specific Regions in the Human Genome by Array Hydridization
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Unit 18.4 Targeted Exon Sequencing by In-Solution Hybrid Selection
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Supplement 65, April 2010
Unit 4.14 Application of Nexus Copy Number Software for CNV Detection and Analysis
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Unit 10.14 Molecular Analysis of Genetic Markers for Non-Hodgkin Lymphomas
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Unit 11.11 Digital Gene Expression by Tag Sequencing on the Illumina Genome Analyzer
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Unit 20.1 Comprehensive High-Throughput Arrays for Relative Methylation (CHARM)
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Supplement 64, January 2010
Unit 1.9 Overview of Linkage Analysis in Complex Traits
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Unit 9.10 Single-Cell DNA and FISH Analysis for Application to Preimplantation Genetic Diagnosis
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Unit 10.13 Identifying Mutations for MYH-Associated Polyposis
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Unit 17.8 Acylcarnitine Analysis by Tandem Mass Spectrometry
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Supplement 63, October 2009
Unit 9.5 Molecular Analysis of Fragile X Syndrome
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Unit 19.2 Histochemical Methods for the Diagnosis of Mitochondrial Diseases
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Unit 19.3 Evaluation of the Mitochondrial Respiratory Chain and Oxidative Phosphorylation System Using Polarography and Spectrophotometric Enzyme Assays
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Unit 19.4 Evaluation of the Mitochondrial Respiratory Chain and Oxidative Phosphorylation System Using Blue Native Gel Electrophoresis
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Unit 19.5 Evaluation of the Mitochondrial Respiratory Chain and Oxidative Phosphorylation System Using Yeast Models of OXPHOS Deficiencies
Abstract | Full Text: HTML PDF
Supplement 62, July 2009
Unit 9.12 Internet Resources in Medical Genetics
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Unit 9.17 Bone Marrow Engraftment Studies
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Unit 18.2 Improved Protocols for the Illumina Genome Analyzer Sequencing System
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Unit 19.1 Analysis of Oxidative Damage by Gene-Specific Quantitative PCR
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Supplement 61, April 2009
Unit 7.17 An Overview of Custom Array Sequencing
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Unit 9.6 Analysis of Repetitive Regions in Myotonic Dystrophy Type 1 and 2
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Unit 10.6 Methylation-Specific PCR
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Unit 10.12 Genetic Testing for Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
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Unit 18.1 Methods for Generating Shotgun and Mixed Shotgun/Paired-End Libraries for the 454 DNA Sequencer
Abstract | Full Text: HTML PDF
Supplement 60, January 2009
Unit 2.12 SNP Genotyping Using the Sequenom MassARRAY iPLEX Platform
Abstract | Full Text: HTML PDF
Unit 8.5 PolyPhred Analysis Software for Mutation Detection from Fluorescence-Based Sequence Data
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Unit 9.15 Clinical Validity and Clinical Utility of Genetic Tests
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Unit 9.19 Overview of Pharmacogenetics
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Unit 9.20 Robust Dosage PCR (RD-PCR) for Highly Accurate Dosage Analysis
Abstract | Full Text: HTML PDF
Unit 15.2 Use of Mouse Models for the Analysis of Human Disease
Abstract | Full Text: HTML PDF
Supplement 59, October 2008
Unit 1.14 Analysis of Gene-Gene Interactions
Abstract | Full Text: HTML PDF
Unit 7.16 PolyPhred Analysis Software for Mutation Detection from Fluorescence-Based Sequence Data
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Unit 8.13 Use of Affymetrix Mapping Arrays in the Diagnosis of Gene Copy Number Variation
Abstract | Full Text: HTML PDF
Unit 17.7 Management and Quality Assurance in the Biochemical Genetics Laboratory
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Supplement 58, July 2008
Unit 1.12 Disease Associations and Family-Based Tests
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Unit 8.12 Oligonucleotide Microarrays for Clinical Diagnosis of Copy Number Variation
Abstract | Full Text: HTML PDF
Unit 11.10 High-Throughput Quantitative Real-Time PCR
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Unit 17.6 Investigational Methods for Peroxisomal Disorders
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Supplement 57, April 2008
Unit 1.18 Calculation and Use of the Hardy-Weinberg Model in Association Studies
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Unit 7.9 Mutation Detection Using Automated Fluorescence-Based Sequencing
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Unit 10.10 p53 Testing for Li-Fraumeni and Li-Fraumeni-Like Syndrome
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Unit 10.11 The Catalogue of Somatic Mutations in Cancer (COSMIC)
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Appendix 2A Laboratory Safety
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Supplement 56, January 2008
Unit 2.10 Genotyping Using the TaqMan Assay
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Unit 7.15 Selection of a Platform for Mutation Detection
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Unit 13.7 Human Hematopoietic Cell Culture, Transduction, and Analyses
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Unit 17.5 Diagnosis of Inherited Disorders of Galactose Metabolism
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Supplement 55, October 2007
Unit 3.6 Conversion Technology for the Separation of Maternal and Paternal Copies of Any Autosomal Chromosome in Somatic Cell Hybrids
Abstract | Full Text: HTML PDF
Unit 8.2 Quality Assurance and Quality Control in Clinical Cytogenetics
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Unit 10.1 Overview of Genetic Diagnosis in Cancer
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Supplement 54, July 2007
Unit 5.20 Fosmid Libraries for Genomic Structural Variation Detection
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Unit 11.4 Analysis of Expression Data: An Overview
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Unit 12.10 Production and Titration of Lentiviral Vectors
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Unit 17.3 Quantification of Creatine and Guanidinoacetate Using GC-MS and LC-MS/MS for the Detection of Cerebral Creatine Deficiency Syndromes
Abstract | Full Text: HTML PDF
Unit 17.4 Detection of Hypo- N -Glycosylation Using Mass Spectrometry of Transferrin
Abstract | Full Text: HTML PDF
Supplement 53, April 2007
Unit 5.19 Large-Scale BAC Clone Restriction Digest Fingerprinting
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Unit 11.7 Serial Analysis of Gene Expression (SAGE): Experimental Method and Data Analysis
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Unit 12.9 Production of Recombinant Adeno-Associated Viral Vectors
Abstract | Full Text: HTML PDF
Appendix 3D Quantitation of DNA and RNA with Absorption and Fluorescence Spectroscopy
Abstract | Full Text: HTML PDF
Supplement 52, January 2007
Unit 1.17 Population-Based Case-Control Association Studies
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Unit 5.18 Human Artificial Chromosome Assembly by Transposon-Based Retrofitting of Genomic BACs with Synthetic Alpha-Satellite Arrays
Abstract | Full Text: HTML PDF
Unit 6.8 Using BLAST for Performing Sequence Alignment
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Unit 8.8 Preparation of Cells from Formalin-Fixed, Paraffin-Embedded Tissue for Use in Fluorescence In Situ Hybridization (FISH) Experiments
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Unit 12.7 Production of Vesicular Stomatitis Virus G Glycoprotein (VSV-G) Pseudotyped Retroviral Vectors
Abstract | Full Text: HTML PDF
Supplement 51, October 2006
Unit 6.10 Searching the NCBI Databases Using Entrez
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Unit 7.14 MLPA and MAPH: Sensitive Detection of Deletions and Duplications
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Unit 13.3 Ex Vivo and In Vivo Gene Delivery to the Brain
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Unit 17.2 Chromatographic Analysis of Amino and Organic Acids in Physiological Fluids to Detect Inborn Errors of Metabolism
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Appendix 3G Techniques for Mammalian Cell Tissue Culture
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Supplement 50, July 2006
Unit 9.12 Internet Resources in Medical Genetics
Full Text: HTML PDF
Unit 10.8 Detecting Mutations in the APC Gene in Familial Adenomatous Polyposis (FAP)
Abstract | Full Text: HTML PDF
Unit 10.9 EGF Receptor Testing for Non-Small Cell Lung Carcinomas
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Unit 12.1 Biosafety in Handling Gene Transfer Vectors
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Supplement 49, April 2006
Unit 5.17 Selective Isolation of Mammalian Genes by TAR Cloning
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Unit 9.3 Multiplex PCR for Identifying DMD Gene Deletions
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Unit 9.19 Overview of Pharmacogenetics
Full Text: HTML PDF
Supplement 48, January 2006
Unit 1.7 Use of LINKAGE Programs for Linkage Analysis
Abstract | Full Text: HTML PDF
Unit 7.10 DNA Mutation Detection Using Denaturing High-Performance Liquid Chromatography (DHPLC)
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Unit 9.1 Overview of Molecular Genetic Diagnosis
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Unit 15.1 Overview of Model Systems for the Analysis of Human Disease
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Unit 15.6 Yeast as a Model for Human Disease
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Supplement 47, October 2005
Unit 1.3 Strategies for Genotype Generation
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Unit 1.16 Informed Consent for Genetic Research
Full Text: HTML PDF
Unit 9.18 Infectious Diseases Testing
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Unit 12.13 Helper-Dependent Adenoviral Vectors
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Unit 17.1 An Overview of Biochemical Genetics
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Supplement 46, July 1995
Unit 1.15 Detecting Gene-Gene Interaction in Linkage Analysis
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Unit 4.4 Microscopy and Image Analysis
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Unit 4.13 The BAC Resource: Tools for Array CGH and FISH
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Supplement 45, January April 2005
Unit 4.1 Metaphase Chromosome Preparation from Cultured Peripheral Blood Cells
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Unit 4.3 In Situ Hybridization to Metaphase Chromosomes and Interphase Nuclei
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Unit 11.9 An Overview of Spotfire for Gene-Expression Studies
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Supplement 44, January 2005
Unit 4.5 High-Resolution FISH Analysis
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Unit 4.7 Morphology Antibody Chromosome Technique for Determining Phenotype and Genotype of the Same Cell
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Unit 7.11 Human Mutation Databases
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Unit 11.8 Gene Expression Analysis of a Single or Few Cells
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Supplement 43, October 2004
Unit 9.16 Molecular Diagnosis of Hearing Loss
Abstract | Full Text: HTML PDF
Unit 9.17 Bone Marrow Engraftment Studies
Full Text: HTML PDF
Unit 12.13 Helper-Dependent Adenoviral Vectors
Full Text: HTML PDF
Appendix 1D Reporting of Diagnostic Cytogenetic Results
Abstract | Full Text: HTML PDF
Supplement 42, July 2004
Unit 2.12 SNP Genotyping Using Sequenom MassARRAY 7K Platform
Full Text: HTML PDF
Unit 4.12 Principles and Applications of PRINS in Cytogenetics
Abstract | Full Text: HTML PDF
Unit 9.11 Protein Truncation Test
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Unit 9.15 Clinical Validity and Clinical Utility of Genetic Tests
Full Text: HTML PDF
Supplement 41, April 2004
Unit 1.10 Comparative Bioinformatics for Mouse and Human Genes: Getting Started
Abstract | Full Text: HTML PDF
Unit 9.4 Simultaneous Detection of Multiple Point Mutations Using Allele-Specific Oligonucleotides
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Unit 14.8 Short Tandem Repeat Analysis for Human Identity Testing
Abstract | Full Text: HTML PDF
Supplement 40, January 2004
Unit 1.1 Collection of Clinical and Epidemiological Data for Linkage Studies
Abstract | Full Text: HTML PDF
Unit 6.10 Searching the NCBI Databases Using Entrez
Full Text: HTML PDF
Unit 12.4 Adenoviral Vectors
Abstract | Full Text: HTML PDF
Unit 15.5 Use of Chicken Models for the Analysis of Human Disease
Abstract | Full Text: HTML PDF
Unit 16.1 Sample Preparation
Abstract | Full Text: HTML PDF
Supplement 39, October 2003
Unit 1.14 Analysis of Gene-Gene Interactions
Full Text: HTML PDF
Unit 2.11 High-Throughput Genotyping with Primer Extension Fluorescent Polarization Detection
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Unit 6.5 Grail EXP and Genome Analysis Pipeline for Genome Annotation
Abstract | Full Text: HTML PDF
Unit 10.7 Constructing Tissue Microarrays for Research Use
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Unit 15.4 ENU Mutagenesis in the Mouse
Abstract | Full Text: HTML PDF
Supplement 38, July 2003
Unit 1.12 Disease Associations and Family-Based Tests
Full Text: HTML PDF
Unit 9.5 Molecular Analysis of Fragile X Syndrome
Full Text: HTML PDF
Unit 9.14 Genotyping of Apolipoprotein E : Comparative Evaluation of Different Protocols
Abstract | Full Text: HTML PDF
Unit 11.4 Analysis of Expression Data: An Overview
Full Text: HTML PDF
Appendix 3N Proper Alignment and Adjustment of the Light Microscope
Full Text: HTML PDF
Supplement 37, April 2003
Unit 7.11 Human Mutation Databases
Full Text: HTML PDF
Unit 7.13 Mutation Nomenclature
Abstract | Full Text: HTML PDF
Unit 8.7 Diagnosis of Fanconi Anemia by Diepoxybutane Analysis
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Unit 13.2 DNA Vaccination
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Appendix 3M Basic Statistics
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Supplement 36, January 2003
Unit 9.1 Overview of Molecular Genetic Diagnosis
Full Text: HTML PDF
Unit 10.2 Metaphase Harvest and Cytogenetic Analysis of Malignant Hematological Specimens
Abstract | Full Text: HTML PDF
Unit 11.7 Serial Analysis of Gene Expression (SAGE)
Full Text: HTML PDF
Appendix 3L Introduction to Basic Mouse Handling Techniques
Abstract | Full Text: HTML PDF
Supplement 35, October 2002
Unit 7.9 Heterozygote Detection Using Automated Fluorescence-Based Sequencing
Full Text: HTML PDF
Unit 8.2 Quality Assurance and Quality Control in Clinical Cytogenetics
Full Text: HTML PDF
Unit 9.7 Detection of Nonrandom X Chromosome Inactivation
Abstract | Full Text: HTML PDF
Unit 9.13 Searching Online Mendelian Inheritance in Man ( OMIM ) for Information for Genetic Loci Involved in Human Disease
Abstract | Full Text: HTML PDF
Unit 12.1 Biosafety in Handling Gene Transfer Vectors
Full Text: HTML PDF
Appendix 1C Human and Mouse Gene Nomenclature
Abstract | Full Text: HTML PDF
Supplement 34, July 2002
Unit 4.11 Single-Nucleotide Sequence Discrimination In Situ Using Padlock Probes
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Unit 4.12 Principles and Applications of PRINS in Cytogenetics
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Unit 6.9 Accessing the Human Genome
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Unit 9.2 Quality Assurance and Quality Control in Diagnostic Molecular Biology
Abstract | Full Text: HTML PDF
Unit 15.3 Use of Zebrafish Models for the Analysis of Human Disease
Abstract | Full Text: HTML PDF
Supplement 33, April 2002
Unit 12.2 Semliki Forest Virus and Sindbis Virus Vectors
Abstract | Full Text: HTML PDF
Unit 12.11 Construction of Replication-Defective Herpes Simplex Virus Vectors
Abstract | Full Text: HTML PDF
Unit 12.12 Gene Delivery Using Helper Virus–Free HSV-1 Amplicon Vectors
Abstract | Full Text: HTML PDF
Supplement 32, January 2002
Unit 1.6 Single-Sperm Typing
Abstract | Full Text: HTML PDF
Unit 2.10 High-Throughput Genotyping Using the TaqMan Assay
Full Text: HTML PDF
Unit 7.12 Single-Strand Conformation Polymorphism Analysis Using Capillary Electrophoresis
Abstract | Full Text: HTML PDF
Unit 9.10 Single-Cell DNA and FISH Analysis for Application to Preimplantation Genetic Diagnosis
Full Text: HTML PDF
Unit 15.2 Use of Mouse Models for the Analysis of Human Disease
Full Text: HTML PDF
Supplement 31, October 2001
Unit 5.1 Pulsed-Field Gel Electrophoresis for Long-Range Restriction Mapping
Abstract | Full Text: HTML PDF
Unit 13.1 Gene Transfer to Arteries
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Unit 13.4 Gene Delivery to Muscle
Abstract | Full Text: HTML PDF
Supplement 30, August 2001
Unit 5.12 Introduction of Large Insert DNA into Mammalian Cells and Embryos
Abstract | Full Text: HTML PDF
Unit 11.5 Differential Display of m RNA by PCR
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Unit 11.6 One-Step Enzymatic Purification of PCR Products for Direct Sequencing
Abstract | Full Text: HTML PDF
Appendix 3K Analysis of RNA by Northern Blot Hybridization
Abstract | Full Text: HTML PDF
Supplement 29, May 2001
Unit 1.2 Pedigree Selection and Information Content
Abstract | Full Text: HTML PDF
Unit 6.6 Gene Identification: Methods and Considerations
Abstract | Full Text: HTML PDF
Unit 8.1 Overview of Clinical Cytogenetics
Abstract | Full Text: HTML PDF
Unit 9.12 Internet Resources in Medical Genetics
Full Text: HTML PDF
Supplement 28, March 2001
Unit 1.7 Use of LINKAGE Programs for Linkage Analysis
Full Text: HTML PDF
Unit 1.8 Model-Free Tests for Genetic Linkage
Abstract | Full Text: HTML PDF
Supplement 27, November 2000
Unit 2.9 Single-Nucleotide Polymorphism Genotyping Using Microarrays
Abstract | Full Text: HTML PDF
Unit 6.8 Using BLAST for Performing Sequence Alignment
Full Text: HTML PDF
Unit 11.3 Profiling Human Gene Expression with cDNA Microarrays
Abstract | Full Text: HTML PDF
Supplement 26, August 2000
Unit 12.10 Production and Titration of Lentiviral Vectors
Full Text: HTML PDF
Unit 14.3 Isolation of DNA from Forensic Evidence
Abstract | Full Text: HTML PDF
Unit 14.7 Molecular Analysis of the Human Mitochondrial DNA Control Region for Forensic Identity Testing
Abstract | Full Text: HTML PDF
Appendix 2D Common Buffers, Media, and Stock Solutions
Abstract | Full Text: HTML PDF
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Supplement 25, May 2000
Unit 3.5 Use of Commercially Available Radiation Hybrid Panels
Abstract | Full Text: HTML PDF
Unit 4.10 Mitotic Chromosome Preparations from Mouse Cells for Karyotyping
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Unit 6.7 Sequence Databases: Integrated Information Retrieval and Data Submission
Abstract | Full Text: HTML PDF
Unit 11.2 Oligonucleotide Arrays for Expression Monitoring
Abstract | Full Text: HTML PDF
Supplement 24, February 2000
Unit 4.9 Multicolor Fluorescence In Situ Hybridization (FISH) Approaches for Simultaneous Analysis of the Entire Human Genome
Abstract | Full Text: HTML PDF
Unit 8.11 Molecular Cytogenetic Analysis of Telomere Rearrangements
Abstract | Full Text: HTML PDF
Unit 11.1 Genetic Analyses on DNA Microarrays
Abstract | Full Text: HTML PDF
Appendix 3J Internet Basics for Biologists
Abstract | Full Text: HTML PDF
Supplement 23, November 1999
Unit 9.11 Protein Truncation Test
Full Text: HTML PDF
Unit 12.9 Production of Recombinant Adeno-Associated Viral Vectors
Full Text: HTML PDF
Supplement 22, August 1999
Unit 1.13 Human Mapping Databases
Abstract | Full Text: HTML PDF
Unit 4.4 Microscopy and Image Analysis
Full Text: HTML PDF
Unit 5.17 Selective Isolation of Mammalian Genes by TAR Cloning
Full Text: HTML PDF
Unit 13.10 Gene Delivery to the Liver
Abstract | Full Text: HTML PDF
Supplement 21, May 1999
Unit 5.6 Screening Large-Insert Libraries by Hybridization
Abstract | Full Text: HTML PDF
Unit 5.15 Construction of Bacterial Artificial Chromosome (BAC/PAC) Libraries
Abstract | Full Text: HTML PDF
Appendix 2E Automation and Robotics for Genetic Analysis
Abstract | Full Text: HTML PDF
Supplement 20, February 1999
Unit 1.3 Strategies for Genotype Generation
Full Text: HTML PDF
Unit 12.8 Liposome Vectors for In Vivo Gene Delivery
Abstract | Full Text: HTML PDF
Supplement 19, November 1998
Unit 7.10 DNA Mutation Detection Using Denaturing High-Performance Liquid Chromatography (DHPLC)
Full Text: HTML PDF
Unit 14.6 Manual Methods for PCR-Based Forensic DNA Analysis
Abstract | Full Text: HTML PDF
Appendix 3A References to Molecular Biology Techniques
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Appendix 3B Isolation of Genomic DNA from Mammalian Cells
Abstract | Full Text: HTML PDF
Supplement 18, August 1998
Unit 13.9 Gene Delivery to the Airway
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Unit 14.5 RFLP Analysis of Forensic DNA Samples with Single-Locus VNTR Genetic Markers
Abstract | Full Text: HTML PDF
Appendix 4A Karyotyping
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Appendix 4B ISCN Standard Idiograms
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Appendix 5 Genetic Linkage Reference Maps: Access to Internet-Based Resources
Abstract | Full Text: HTML PDF
Supplement 17, May 1998
Unit 5.9 Deriving Probes From Large-Insert Clones by PCR Methods
Abstract | Full Text: HTML PDF
Unit 7.5 Detection of Mutations by Denaturing Gradient Gel Electrophoresis
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Appendix 4C ISCN Rules for Listing Chromosomal Rearrangements
Abstract | Full Text: HTML PDF
Supplement 16, February 1998
Unit 10.6 Methylation-Specific PCR
Full Text: HTML PDF
Unit 14.4 Molecular Analysis of Paternity
Abstract | Full Text: HTML PDF
Supplement 15, November 1997
Unit 5.10 Constructing Contigs from Large-Insert Clones
Abstract | Full Text: HTML PDF
Unit 7.3 Mismatch Detection Using Heteroduplex Analysis
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Unit 7.4 Detection of Mutations by Single-Strand Conformation Polymorphism (SSCP) Analysis and SSCP-Hybrid Methods
Abstract | Full Text: HTML PDF
Unit 14.1 Overview of Human Identity Testing and Forensic Genetics
Abstract | Full Text: HTML PDF
Unit 14.2 Collecting and Handling Samples for Parentage and Forensics DNA-Based Genetic Testing
Abstract | Full Text: HTML PDF
Supplement 14, August 1997
Unit 2.8 Automated Fluorescent Genotyping
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Unit 4.8 Chromosome Microdissection
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Unit 7.2 Detection of Mutations by RNase Cleavage
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Unit 8.10 Diagnosis of Microdeletion Syndromes by Fluorescence in situ Hybridization ( FISH )
Abstract | Full Text: HTML PDF
Unit 13.7 Human Hematopoietic Cell Culture, Transduction, and Analyses
Full Text: HTML PDF
Unit 13.8 Cancer Vaccines
Abstract | Full Text: HTML PDF
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Supplement 13, May 1997
Unit 1.11 Homozygosity Mapping Using Pooled DNA
Abstract | Full Text: HTML PDF
Unit 5.16 Navigating Public Physical Mapping Databases
Abstract | Full Text: HTML PDF
Unit 9.9 Molecular Analysis of Oxidative Phosphorylation Diseases for Detection of Mitochondrial DNA Mutations
Abstract | Full Text: HTML PDF
Unit 10.1 Overview of Genetic Diagnosis in Cancer
Full Text: HTML PDF
Unit 12.7 Production of Pseudotype-Retroviral Vectors
Full Text: HTML PDF
Supplement 12, February 1997
Unit 2.5 PCR Methods of Genotyping
Abstract | Full Text: HTML PDF
Unit 7.8 Detection of Mutations by Fluorescence-Assisted Mismatch Analysis (FAMA)
Abstract | Full Text: HTML PDF
Unit 12.6 Particle-Mediated Gene Delivery In Vivo and In Vitro
Abstract | Full Text: HTML PDF
Unit 13.5 Methods for Cancer Gene Therapy
Abstract | Full Text: HTML PDF
Unit 13.6 Development of Molecular Genetic Interventions for HIV Infection
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Supplement 11, November 1996
Unit 12.3 Preparation of Adenovirus-Polylysine-DNA Complexes
Abstract | Full Text: HTML PDF
Unit 12.5 Production of Retroviral Vectors
Abstract | Full Text: HTML PDF
Unit 13.3 Ex Vivo and In Vivo Gene Delivery to the Brain
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Supplement 10, August, 1996
Unit 2.6 Genotyping by Ligation Assays
Abstract | Full Text: HTML PDF
Unit 9.10 Single-Cell DNA Analysis for Application to Preimplantation Genetic Diagnosis
Unit 12.1 Production of Recombinant Adeno-Associated Viral Vectors
Unit 12.2 Construction of Replication-Defective Herpes Simplex Virus Vectors
Unit 13.1 Gene Transfer to Arteries
Unit 13.2 DNA Vaccination
Supplement 9, May 1996
Unit 1.4 Analysis of Genetic Linkage Data for Mendelian Traits
Abstract | Full Text: HTML PDF
Unit 1.9 Overview of Linkage Analysis in Complex Traits
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Unit 1.10 Genetic Mapping of the Mouse
Full Text: HTML PDF
Unit 5.3 Construction of Bacteriophage P1 Libraries with Large Inserts
Abstract | Full Text: HTML PDF
Appendix 6 Human-Mouse Comparative Maps
Abstract | Full Text: HTML PDF
Supplement 8, February 1996
Unit 4.7 Morphology Antibody Chromosome Technique for Determining Phenotype and Genotype of the Same Cell
Full Text: HTML PDF
Appendix 3I Preparation of DNA from Fixed, Paraffin-Embedded Tissue
Abstract | Full Text: HTML PDF
Supplement 7, November 1995
Unit 8.2 Quality Assurance and Quality Control in Clinical Cytogenetics
Unit 9.9 Detection of Mitochondrial DNA Mutations
Unit 11.3 Sequence Similarity Using the BLAST Family of Programs
Unit Human Mapping Databases
Appendix 2A Laboratory Safety
Full Text: HTML PDF
Supplement 6, August 1995
Unit 4.6 Comparative Genomic Hybridization
Abstract | Full Text: HTML PDF
Unit 5.14 Transfer of YAC Clones to New Hosts by Karyogamy-Deficient Mating
Abstract | Full Text: HTML PDF
Unit 7.7 Mutation Detection by Cycle Sequencing
Abstract | Full Text: HTML PDF
Supplement 5, May 1995
Unit 5.13 Building Larger YACs by Recombination
Abstract | Full Text: HTML PDF
Unit 8.9 Preparation of Amniocytes for Interphase Fluorescence In Situ Hybridization ( FISH )
Abstract | Full Text: HTML PDF
Supplement 4, February 1995
Unit 4.5 High-Resolution FISH Analysis
Full Text: HTML PDF
Unit 11.1 Internet Basics for Biologists
Unit 11.2 Sequence Databases: Information Retrieval and Data Submission
Unit 11.3 Sequence Similarity Searching Using the BLAST Family of Programs
Supplement 3, November 1994
Unit 5.11 Generating Subclones from Large-Insert Genomic Clones
Abstract | Full Text: HTML PDF
Unit 6.1 Isolation of Exons from Cloned DNA by Exon Trapping
Abstract | Full Text: HTML PDF
Unit 9.8 Amplification-Refractory Mutation System ( ARMS ) Analysis of Point Mutations
Abstract | Full Text: HTML PDF
Appendix 1B Overview of Human Repetitive DNA Sequences
Abstract | Full Text: HTML PDF
Supplement 2, August 1994
Unit 8.6 Analysis of Sister-Chromatid Exchanges
Abstract | Full Text: HTML PDF
Unit 8.8 Determination of Chromosomal Aneuploidy Using Paraffin-Embedded Tissue
Full Text: HTML PDF
Unit 10.3 Metaphase Harvest and Cytogenetic Analysis of Solid Tumor Cultures
Abstract | Full Text: HTML PDF
Unit 10.4 Molecular Analysis of DNA Rearrangements in Leukemias and Non-Hodgkin's Lymphomas
Abstract | Full Text: HTML PDF
Unit 10.5 Molecular Analysis of Gene Amplification in Tumors
Abstract | Full Text: HTML PDF
Appendix 3G Techniques for Mammalian Cell Tissue Culture
Full Text: HTML PDF
Appendix 3H Establishment of Permanent Cell Lines by Epstein-Barr Virus Transformation
Abstract | Full Text: HTML PDF
Supplement 1, May 1994
Unit 1.5 Construction of Reference Genetic Maps
Abstract | Full Text: HTML PDF
Unit 2.7 Restriction Fragment Length Polymorphism Analysis
Abstract | Full Text: HTML PDF
Unit 5.4 Construction of Chromosome Jumping and Linking Libraries in E. coli
Abstract | Full Text: HTML PDF
Unit 9.6 Analysis of Trinucleotide Repeats in Myotonic Dystrophy
Full Text: HTML PDF
Core, 1994
Unit 1.1 Collection of Clinical and Epidemiological Data for Linkage Studies
Unit 1.2 Pedigree Selection and Information Content
Unit 1.3 Strategies for Genotype Generation
Unit 1.4 Analysis of Genetic Linkage Data for Mendelian Traits
Unit 2.1 Construction of Small-Insert Libraries from Genomic DNA
Abstract | Full Text: HTML PDF
Unit 2.2 Construction of Small-Insert Libraries Enriched for Short Tandem Repeat Sequences by Marker Selection
Abstract | Full Text: HTML PDF
Unit 2.3 Colony Hybridization to Screen for Microsatellites
Abstract | Full Text: HTML PDF
Unit 2.4 Characterization of ( CA ) n Microsatellite Repeats from Large-Insert Clones
Abstract | Full Text: HTML PDF
Unit 2.5 PCR Methods of Genotyping
Unit 2.6 Genotyping By Ligation Assays
Unit 3.1 Overview of Somatic Cell Hybrid Mapping
Abstract | Full Text: HTML PDF
Unit 3.2 Construction of Somatic Cell Hybrids
Abstract | Full Text: HTML PDF
Unit 3.3 Construction and Assay of Radiation Hybrids
Abstract | Full Text: HTML PDF
Unit 3.4 Statistical Analysis of Radiation Hybrid Data
Abstract | Full Text: HTML PDF
Unit 4.1 Chromosome Preparation from Cultured Peripheral Blood Cells
Full Text: HTML PDF
Unit 4.2 Chromosome Banding Techniques
Abstract | Full Text: HTML PDF
Unit 4.3 In Situ Hybridization to Metaphase Chromosomes and Interphase Nuclei
Full Text: HTML PDF
Unit 4.4 Microscopy and Image Analysis
Unit 5.1 Pulsed-Field Gel Electrophoresis for Long-Range Restriction Mapping
Unit 5.2 Construction of YAC Libraries with Large Inserts
Abstract | Full Text: HTML PDF
Unit 5.3 Construction of Bacteriophage P1 Libraries with Large Inserts
Unit 5.4 Construction of Chromosome Jumping and Linking Libraries in E. coli
Unit 5.5 Screening Large-Insert Libraries by PCR
Abstract | Full Text: HTML PDF
Unit 5.6 Screening Large-Insert Libraries by Hybridization
Unit 5.7 Purification and Characterization of YACs Containing Large Inserts
Abstract | Full Text: HTML PDF
Unit 5.8 Rescuing YAC-Insert Ends as E. coli Plasmids
Abstract | Full Text: HTML PDF
Unit 6.1 Isolation of Exons from Cloned DNA by Exon Trapping
Unit 6.2 Identifying Transcribed Sequences in Arrayed Bacteriophage or Cosmid Libraries
Abstract | Full Text: HTML PDF
Unit 6.3 Direct Selection of cDNAs Using Genomic Contigs
Abstract | Full Text: HTML PDF
Unit 6.4 Identification of Intron/Exon Boundaries in Genomic DNA by Inverse PCR
Abstract | Full Text: HTML PDF
Unit 7.1 Amplification of Sequences from Affected Individuals
Abstract | Full Text: HTML PDF
Unit 7.2 Detection of Mutations by RNase Cleavage
Unit 7.3 Mismatch Detection Using Heteroduplex Analysis
Unit 7.4 Detection of Mutations by Single-Strand Conformation Polymorphismm (SSCP) Analysis and SSCP-Hybrid Methods
Unit 7.5 Detection of Mutations by Denaturing Gradient Gel Electrophoresis
Unit 7.6 Chemical Cleavage of Heteroduplex DNA to Identify Mutations
Abstract | Full Text: HTML PDF
Unit 8.1 Overview of Clinical Cytogenetics
Unit 8.2 Quality Assurance and Quality Control in Clinical Cytogenetics
Unit 8.3 Preparation of Metaphase Spreads from Chorionic Villus Samples
Abstract | Full Text: HTML PDF
Unit 8.4 Preparation, Culture, and Analysis of Amniotic Fluid Samples
Abstract | Full Text: HTML PDF
Unit 8.5 Preparation and Culture of Products of Conception and Other Solid Tissues for Chromosome Analysis
Full Text: HTML PDF
Unit 8.6 Analysis of Sister-Chromatid Exchanges
Unit 8.7 Diagnosis of Fanconi Anemia by Diepoxybutane Analysis
Unit 9.1 Overview of Molecular Genetic Diagnosis
Unit 9.2 Quality Assurance and Quality Control in Diagnostic Molecular Biology
Unit 9.3 Multiplex PCR for Identifying Dysotrophin Gene Deletions
Full Text: HTML PDF
Unit 9.4 Simultaneous Detection of Multiple Point Mutations Using Allele-Specific Oligonucleotides
Full Text: HTML PDF
Unit 9.5 Molecular Analysis of Fragile X Syndrome
Appendix 1A Abbreviations Used in this Manual
Abstract | Full Text: HTML PDF
Appendix 2A Laboratory Safety
Appendix 2B Centrifuges and Rotors
Abstract | Full Text: HTML PDF
Appendix 2C Standard Laboratory Items
Abstract | Full Text: HTML PDF
Appendix 3A References to Molecular Biology Techniques
Appendix 3B Isolation of Genomic DNA from Mammalian Cells
Appendix 3C Extraction and Precipitation of DNA
Abstract | Full Text: HTML PDF
Appendix 3D Quantitation of DNA and RNA with Absorption and Fluorescence Spectroscopy
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Appendix 3E Enzymatic Labeling of DNA
Abstract | Full Text: HTML PDF
Appendix 3F Denaturing Polyacrylamide Gel Electrophoresis
Abstract | Full Text: HTML PDF