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Chapter

Cover An Introduction to Molecular Ecology

Genomes  

This chapter focuses on genomes. The genome is recognized to be the complete set of an organism's DNA. The chapter discusses the history of the first genome sequences. It gives an overview of notable genomes and their date of publication. The chapter highlights the Human Genome Project in line with competing sequencing strategies for eukaryotic genomes and comparative genomics. It notes that whole genome shotgun (WGS) and next generation sequencing (NGS) are used to sequence genomes. Genome reassembly is the major challenge of sequencing a large eukaryotic genome. In addition, the chapter explains microbiomes being used in metabarcoding and metagenomics approaches. It also explores genome annotation.

Chapter

Cover Introduction to Genomics

The Human Genome Project: Achievements and Applications  

This chapter discusses the Human Genome Project, including its history and links to various organizations. The chapter acknowledges that technological advancement has turned genome sequencing into a high-throughput data-generation engine and anticipates that pharmacogenomics, or personalized medicine, will continue to grow. It explains that identifying the genetic substrate underlying diseases can become crucial in clinical treatment as gene editing using CRISPR/Cas technology could be used to repair defective genes of human embryos. The chapter considers how humans differ from other species and from one another, and looks into DNA and the application of genomics in the context of personal identification and parental determination. The chapter also mentions the ethical, legal, and social issues linked to genomics and the Human Genome Project.

Book

Cover Introduction to Genomics
Introduction to Genomics provides insight into many topics in the field of genomics, including the similarities and differences between organisms, how different organisms evolved, and how our understanding of genomics may inform human health and well-being in the future. After a general introduction, the book looks at the human genome project before turning its attention to mapping, sequencing, annotation, and databases. It also looks at evolution and genomic change. The text examines the following topics in more detail: the genomes of prokaryotes and viruses, the genomes of eukaryotes, and comparative genomics. It looks at the impact of genomics on human health and disease and the relationship between genomics and anthropology. Finally transcriptomics, proteomics, metabolomics, and systems biology are considered.

Chapter

Cover Genetics in Medicine

Nucleic Acids, Genes, and Genomes  

This chapter examines the structure of the DNA molecule and its organization in line with chromosomes and the mitochondria of human cells. It explores the human genome and the organization of coding and non-coding DNA. Additionally, the chapter highlights the roles of the Human Genome Project (HGP) and spin-off projects in the progress of genetic medicine. It also compares the function of RNA molecules in the transcription and translation into protein sequences. It then tackles the regulation of gene expression which is the transmission of information from a DNA sequence that results in a gene product. Moreover, the chapter states that epigenetic changes can modify gene expression without an associated change in the DNA sequence.

Chapter

Cover Introduction to Bioinformatics

From genetics to genomes  

This chapter provides a background on genetics and genomes, and the development of DNA sequencing by biochemist Frederick Sanger. It begins by outlining some of the important landmarks in the history of genomics, from the classical work of Charles Darwin and Gregor Mendel, through Thomas Hunt Morgan and Alfred Sturtevant, to the discovery of the double-helical structure of DNA and the development of the human genome project. The chapter then distinguishes different types of maps: genetic linkage maps, chromosome banding patterns, restriction maps, and DNA sequences. It also looks at the basic computational problems of pattern matching. DNA sequence data can be used for personal identification, including the verification of family relationships, and crime investigation. Finally, the chapter considers the ethical, legal, and social problems associated with DNA sequence databases.