Human Genetics and Genomics: A Practical Guide

Cover
Title Page
Copyright
Contents
About the Authors
Introduction
Chapter 1 Exploring Online Genetics Sources
	Background
	Human Genome Project
	National Center for Biotechnology Information (NCBI)
	UCSC Genome Browser
	The Encyclopedia of DNA Elements (ENCODE)
	Roadmap Epigenomic Project
	References
	Exercise Questions
	Additional Exercise Questions
Chapter 2 Observation of Human Inheritance
	Background
	Mendelian Genetics
	The Transmission of Hereditary Characteristics
	Mendelian Disorders
	References
	Exercise Questions
	Additional Exercise Questions
Chapter 3 Reading, Understanding, and Constructing Human Pedigrees
	Background
	Basic Pedigree Nomenclature
	Modes of Inheritance
	Autosomal Recessive Inheritance
	Pedigrees Representing Autosomal Recessive Inheritance
	Autosomal Dominant Inheritance
	Pedigrees Representing Autosomal Dominant Inheritance
	X‐Linked Recessive Inheritance
	Pedigrees Representing X‐Linked Recessive Inheritance
	X‐Linked Dominant Inheritance
	Pedigrees Representing X‐Linked Dominant Inheritance
	Y‐Linked Inheritance
	Pedigrees Representing Y‐Linked Inheritance
	Non‐Mendelian Patterns of Inheritance
	Confounding Factors in Pedigree Generation and Interpretation
	References
	Exercise Questions
	Additional Exercise Questions
Chapter 4 Cytogenetics
	Background
	Generation of Karyograms/Chromosome Banding
	FISH, Fluorescent In Situ Hybridization
	Comparative Genomic Hybridization (CGH) and Array‐Based CGH Technology
	Chromosomal Abnormalities
	Numerical Chromosomal Abnormalities
	Structural Chromosomal Abnormalities
	References
	Exercise Questions
	Additional Exercise Questions
Chapter 5 Exploring DNA, RNA, and Protein Sequence Databases and Genome Browsers
	Background
	General Biological Databases
	RNA‐Specific Databases
	Protein‐Specific Databases
	Regulatory DNA Database
	Genome Browsers
	References
	Exercise Questions
	Additional Exercise Questions
Chapter 6 Exploring Online Bioinformatics Tools
	Background
	BLAST
	ExPASy
	Clustal Omega
	Reactome
	References
	Exercise Questions
	Additional Exercise Questions
Chapter 7 Multifactorial Inheritance and Common Complex Diseases
	Background
	Polygenic Complex Diseases
	Investigating Complex Traits
	Obesity as a Complex Disease
	Diabetes Mellitus Type 2 as a Complex Disease
	Coronary Artery Diseases as Complex Diseases
	References
	Exercise Questions
	Additional Exercise Questions
Chapter 8 Neurogenetics and Behavioral Genetics
	Background
	Genetic Regulation of Neural Development
	Structure and Function of the Nervous System
	Understanding the Genetics of Neurological Disease
	Examples of Neurogenetic Disorders
		Huntington\'s Disease
		Parkinson\'s Disease
		Rett Syndrome
	Behavioral Genetics
	Genetics of Depression
	Genetics of Drug Addiction
	Genetics of Schizophrenia
	References
	Exercise Questions
	Additional Exercise Questions
Chapter 9 Cancer Genetics
	Background
	Cell Cycle and Its Regulation
	Oncogenes and Tumor Suppressor Genes
	Carcinogens/Environmental Factors in Cancer
	Breast Cancer
	Role of Molecular Medicine in Breast Cancer Treatment
	Recent Advances in Cancer Diagnosis and Treatment
	References
	Exercise Questions
	Additional Exercise Questions
Chapter 10 Genetic Counseling
	Background
	References
	Exercise Questions
	Additional Exercise Questions
Chapter 11 Evolving Tools in Genome Editing: CRISPR‐Cas
	Background
	Mechanism of CRISPR‐Cas9 System
	Applications of CRISPR‐Cas9 System
		Generation of Animal Models and Engineering Cells
		Somatic Genome Editing
		Repair of Genetic Disorders
		Functional Genomic Screening
		Treatment of Infectious Diseases
		Other Applications of CRISPR‐Cas9 System
	References
	Acknowledgment
	Exercise Questions
	Additional Exercise Questions
Glossary
Index
EULA