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Genes make up less than 2% of our DNA and within the remaining 98% lie other extremely important sequences that function as gene regulatory elements, instructing genes when, where and at what levels to turn on or off. In this book, we introduce the different types of gene regulatory elements and how to identify and functionally characterize them. In addition, we describe several pioneering examples of how mutations in these elements have been found to cause human disease.With advances in DNA sequencing, the ability to identify disease-associated mutations in these regulatory elements is rapidly increasing. This book provides a great starting point for clinicians, geneticists, genomicists, developmental biologists and computational biologists to understand how to identify gene regulatory elements and associate nucleotide variation within them to human disease.

Genetic regulation. --- Human genetics. --- Medicine. --- Genetic regulation --- Human immunogenetics --- Biology --- Gene Expression --- Biochemical Processes --- Proteins --- Genetic Processes --- Biochemical Phenomena --- Genetic Phenomena --- Amino Acids, Peptides, and Proteins --- Chemical Processes --- Biological Science Disciplines --- Chemical Phenomena --- Phenomena and Processes --- Chemicals and Drugs --- Natural Science Disciplines --- Disciplines and Occupations --- Transcription Factors --- Transcription, Genetic --- Gene Expression Regulation --- Genetics --- Medicine --- Health & Biological Sciences --- Pathology --- Genetic engineering. --- Genetic disorders. --- Gene therapy. --- Therapy, Gene --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Designed genetic change --- Engineering, Genetic --- Gene splicing --- Genetic intervention --- Genetic surgery --- Gene expression --- Gene expression regulation --- Gene regulation --- Regulation --- Systems biology. --- Developmental biology. --- Biomedicine. --- Human Genetics. --- Developmental Biology. --- Systems Biology. --- Diseases --- Medical genetics --- Genetic recombination --- Biotechnology --- Transgenic organisms --- Genetic engineering --- Therapeutics --- Biosynthesis --- Cellular control mechanisms --- Molecular genetics --- Biological models. --- Development (Biology) --- Growth --- Ontogeny --- Heredity, Human --- Human biology --- Physical anthropology --- Models, Biological --- Computational biology --- Bioinformatics --- Biological systems --- Molecular biology