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- Herausgeber: Wiley-VCH Verlag GmbH & Co. KGaA
- Kategorie: Wissenschaft und neue Technologien
- Sprache: Englisch
Finally meeting the need for a laboratory manual on human genetics, this practical guide is the perfect companion title to all major standard textbooks on the subject. The authors all have a high-level research background and are actively involved in teaching and counseling.
Based on a standard curriculum in human genetics, each chapter equals one practical unit of the course and topics range from basics in human inheritance to genetics in major disease clusters and from bioinformatics and personalized medicine to genetic counseling.
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Seitenzahl: 231
Veröffentlichungsjahr: 2020
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Table of Contents
Cover
About the Authors
Introduction
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
2 Observation of Human Inheritance
Background
Mendelian Genetics
The Transmission of Hereditary Characteristics
Mendelian Disorders
References
Exercise Questions
Additional Exercise Questions
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
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
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
6 Exploring Online Bioinformatics Tools
Background
BLAST
ExPASy
Clustal Omega
Reactome
References
Exercise Questions
Additional Exercise Questions
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
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
Behavioral Genetics
Genetics of Depression
Genetics of Drug Addiction
Genetics of Schizophrenia
References
Exercise Questions
Additional Exercise Questions
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
10 Genetic Counseling
Background
References
Exercise Questions
Additional Exercise Questions
11 Evolving Tools in Genome Editing: CRISPR-Cas
Background
Mechanism of CRISPR-Cas9 System
Applications of CRISPR-Cas9 System
References
Acknowledgment
Exercise Questions
Glossary
Index
End User License Agreement
List of Tables
Chapter 1
Table 1.1 List of selected databases accessible through NCBI's homepage.
Chapter 2
Table 2.1 Descriptions of the basics concepts in human genetics.
Table 2.2 List of Mendelian traits and their associated phenotypes and genotyp...
Table 2.3 List of Mendelian traits and their associated phenotypes and genotyp...
Chapter 3
Table 3.1 Criteria for autosomal recessive inheritance.
Table 3.2 Criteria for autosomal dominant inheritance.
Table 3.3 Criteria for X-linked recessive inheritance.
Table 3.4 Criteria for X-linked dominant inheritance.
Table 3.5 Criteria for Y-linked inheritance.
Chapter 4
Table 4.1 Methods of chromosome banding.
Table 4.2 Name and description of numerical chromosomal abnormalities annotated ...
Table 4.3 Examples of mixoploidy.
Table 4.4 Name and description of structural chromosomal abnormalities.
Table 4.5 Terminology and definitions of certain chromosomal structures and so...
Table 4.6 Syndromes and associated karyotypes.
Chapter 7
Table 7.1 Some genes identified to be associated with BMI based on genome wide a...
Table 7.2 Some genetic variations identified to be associated with CAD based on ...
Chapter 9
Table 9.1 Some oncogenes associated with certain cancers.
Table 9.2 Some tumor suppressor genes associated with certain cancers.
Table 9.3 List of some of the identified carcinogens.
List of Illustrations
Chapter 1
Figure 1.1 NCBI Homepage (Image on Internet; accessed 12 November 2018).
Figure 1.2 NCBI homepage (All Databases; accessed 12 November 2018).
Figure 1.3 NCBI homepage (PubMed; accessed 12 November 2018).
Figure 1.4 NCBI-PubMed database searching the
BRCA1
gene (Image on internet;...
Figure 1.5 NCBI-gene database searching for
BRCA1
gene (Image on Internet; a...
Figure 1.6 NCBI-gene database searching for
BRCA2
gene (Image on Internet; a...
Figure 1.7 NCBI-gene database searching for
BRCA2
gene mouse homolog (Image ...
Figure 1.8 NCBI-OMIM database homepage (Image on Internet; accessed 11 Augus...
Figure 1.9 NCBI-OMIM database searching for muscular dystrophy (Image on Int...
Chapter 2
Figure 2.1 Seven different morphological traits studied by Mendel: seed shap...
Figure 2.2 Crosses between (a) two pure-breeding parental lines and (b) hybr...
Figure 2.3 (a) Cross between parental lines, pure-breeding, homozygous for r...
Figure 2.4 Phenotypic expressions of five different traits that demonstrate ...
Chapter 3
Figure 3.1 Basic pedigree diagram.
Figure 3.2 Tay–Sachs disease pedigree example. In this pedigree, the disease...
Figure 3.3 Phenylketonuria pedigree example. Parental consanguinity (shown b...
Figure 3.4 Cystic fibrosis pedigree example. The grandparents (I-1, I-2) are...
Figure 3.5 Huntington's disease pedigree example. This pedigree shows that t...
Figure 3.6 Marfan syndrome pedigree example, showing that the trait is expre...
Figure 3.7 Duchenne muscular dystrophy pedigree example. Individual III-2 is...
Figure 3.8 Hemophilia A disorder pedigree example. If a son (II-5) inherits ...
Figure 3.9 Retinitis pigmentosa pedigree example. Children of an affected wo...
Figure 3.10 Fragile X syndrome pedigree example. There is no transmission fr...
Figure 3.11 Y chromosome infertility pedigree example. Only males are affect...
Figure 3.12 Leigh syndrome pedigree example. Both males and females are affe...
Chapter 4
Figure 4.1 DNA packed into chromosomes. Tightly wound, highly repetitive het...
Figure 4.2 Centromere position distinguishes chromosomes. Metacentric chromo...
Chapter 5
Figure 5.1 Entrez homepage (Image on Internet; https://www.ncbi.nlm.nih.gov/...
Figure 5.2 (a) GenBank homepage (https://www.ncbi.nlm.nih.gov/genbank/). (b)...
Figure 5.3 Rfam homepage (Image on Internet; https://rfam.xfam.org, accessed...
Figure 5.4 Sample Rfam output (Image on Internet; https://rfam.xfam.org/sear...
Figure 5.5 miRBase homepage (Image on Internet; http://www.mirbase.org/index...
Figure 5.6 Results table for list of miRNAs identified in human chromosome 2...
Figure 5.7 PDB homepage (Image on Internet; https://www.rcsb.org, accessed 2...
Figure 5.8 (a) SMART homepage (http://smart.embl-heidelberg.de). (b) SMART d...
Figure 5.9 ENCODE homepage (Image on Internet; https://www.encodeproject.org...
Figure 5.10 UCSC genome browser homepage (Image on Internet; https://genome....
Figure 5.11 (a) UCSC table browser (https://genome.ucsc.edu/cgi-bin/hgTables...
Figure 5.12 Ensemble homepage (Image on Internet; http://www.ensembl.org/ind...
Chapter 6
Figure 6.1 BLASTN search result for an unknown DNA sequence presented as an ...
Figure 6.2 BLASTN results for an unknown DNA sequence presented in the descr...
Figure 6.3 Six reading frame results of mAchR DNA sequence translated with E...
Figure 6.4 Clustal Omega search page (Image on Internet; https://www.ebi.ac....
Figure 6.5 Alignment of two human zinc finger proteins by ClustalW. Single l...
Figure 6.6 Jalview display of an alignment of three glucokinase DNA sequence...
Figure 6.7 (a) The steps performed to create a phylogenetic tree using the m...
Figure 6.8 Reactome Homepage (Image on Internet; https://reactome.org access...
Chapter 8
Figure 8.1 A schematic representation of a neuron.
Figure 8.2 A schematic representation of a synapse showing the terminal butt...
Figure 8.3 A schematic representation of how the genetic variations, which a...
Chapter 9
Figure 9.1 Phases and the checkpoints of the cell cycle. Green vertical arro...
Figure 9.2 Molecular regulation of the G
1
checkpoint by CDK and cyclin prote...
Figure 9.3 (a) Mutations of proto-oncogenes to oncogenes lead to uncontrolla...
Figure 9.4 Mutations in the
BRCA
genes increase the
risk
of breast cancer. A...
Chapter 10
Figure 10.1 Family history of Mary.
Chapter 11
Figure 11.1 Mechanism of CRISPR-Cas adaptive immune system. The three stag...
Guide
Cover
Table of Contents
Begin Reading
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Human Genetics and Genomics
A Practical Guide
Bahar Taneri
Esra Asilmaz
Türem Delikurt
Pembe Savas
Seniye Targen
Yagmur Esemen
Authors
Bahar Taneri
Eastern Mediterranean University,
Department of Biological Sciences,
Famagusta, North Cyprus
and
Maastricht University, Institute for
Public Health Genomics, Department
of Genetics and Cell Biology, Faculty
of Health, Medicine & Life Sciences,
Maastricht, The Netherlands
Esra Asilmaz
Gastroenterology and General Internal
Medicine at Homerton University
Hospital, London, United Kingdom
Türem Delikurt
European Board of Medical Genetics
Registered Genetic Counselor
Cyprus
Pembe Savas
Eastern Mediterranean University,
Department of Biological Sciences,
Famagusta, North Cyprus
Seniye Targen
Bilkent University, Molecular Biology
and Genetics Department, Faculty of
Science, Cankaya, Ankara, Turkey
Yagmur Esemen
Imperial College Healthcare NHS Trust,
London
United Kingdom
All books published by Wiley-VCH are carefully produced. Nevertheless, authors, editors, and publisher do not warrant the information contained in these books, including this book, to be free of errors. Readers are advised to keep in mind that statements, data, illustrations, procedural details or other items may inadvertently be inaccurate.
Library of Congress Card No.:
applied for
British Library Cataloguing-in-Publication Data
A catalogue record for this book is available from the British Library.
Bibliographic information published by the Deutsche Nationalbibliothek
The Deutsche Nationalbibliothek lists this publication in the Deutsche Nationalbibliografie; detailed bibliographic data are available on the Internet at <http://dnb.d-nb.de>.
© 2020 Wiley-VCH Verlag GmbH & Co. KGaA, Boschstr. 12, 69469 Weinheim, Germany
All rights reserved (including those of translation into other languages). No part of this book may be reproduced in any form – by photoprinting, microfilm, or any other means – nor transmitted or translated into a machine language without written permission from the publishers. Registered names, trademarks, etc. used in this book, even when not specifically marked as such, are not to be considered unprotected by law.
Print ISBN: 978-3-527-33748-4
ePDF ISBN: 978-3-527-68265-2
ePub ISBN: 978-3-527-68263-8
Cover Design Grafik-Design Schulz
For Irmak, Emir, Muharrem Güder and Cem, Remziye Taneri - BT
For Rüzgar and my family - EA
For the loving memory of my beloved father Retired Major Derviş Delikurt - TD
For Vildan Naz and my family - PS
For my father Tözüm Targen, mother Bilge Targen and sister Neşe Targen - ST
For my mother Necla Esemen and my family - YE
and for all our students.
About the Authors
Bahar Taneri is a Professor of Molecular Biology and Genetics at Eastern Mediterranean University (EMU), Famagusta, Cyprus. After obtaining her PhD degree in Biomedical Sciences from The Rockefeller University, New York, USA, in 2005, she has taught several Genetics and Genomics modules at EMU, where she has founded the Molecular Biology and Genetics undergraduate program. At EMU, she has served as the editor-in-chief of the University Research Newsletter for two years. She has also been chairing the Department of Biological Sciences since 2013. She has been an affiliated researcher of the Institute for Public Health Genomics, Department of Genetics and Cell Biology, Faculty of Health, Medicine and Life Sciences at Maastricht University, Netherlands, since 2011. She has authored several publications in the fields of genome biology and personalized medicine. Currently, her main research interests include human genomics, epigenomics, and efficient translation of personalized genome-based findings into healthcare and medicine, for prediction and prevention of common complex diseases. She is a founding member of the Medical Biotechnology Master's program at EMU, where she teaches modules including Genome Editing.
Esra Asilmaz is currently a Locum Consultant in Gastroenterology and General Internal Medicine at Homerton University Hospital in London, UK. She obtained her PhD degree in Molecular Genetics from The Rockefeller University, NYC, USA, in 2004. She subsequently obtained her Bachelor of Medicine, Bachelor of Surgery degree in 2009 from St. George's University of London, UK. Between 2009 and 2011, she completed an academic foundation program at St. Thomas' and Guy's Hospital, London, UK. During this time, she worked at Professor Trembath's Laboratory of Human Genetics and was involved in the identification of Notch2 mutations in Hadju–Cheney Syndrome, a rare genetic condition. She was an Academic Clinical Fellow at University College Hospital, London, UK, between 2011 and 2014 and was a member of Dr. Oben's laboratory at the Institute of Liver and Digestive Health. She obtained her MRCP (UK) Diploma in 2014 and Specialist Examination in Gastroenterology in 2016. She obtained her CCT in Gastroenterology and General Internal Medicine in September 2019.
Turem Delikurt is a registered genetic counselor. She graduated with a BSc in Biology from the University of South Dakota, USA, in 2003. She completed her MSc in Genetic Counseling with merit from the University of Manchester, UK, in 2006. She has been working as a genetic counselor in Cyprus since 2006. In 2015, she was registered by the European Board of Medical Genetics. Her main research interest is the exploration of genetic counseling within the context of culture. She is dedicated to increasing awareness about genetic conditions and genetic counseling, in Cyprus. She penned a weekly column titled “Genetics Today” at one of the main newspapers in Cyprus from 2004 until 2017. Over the years, she has been continuously involved in various civil society activities aimed at increasing the quality of care and life of patients and families at risk of or affected by genetic conditions in Cyprus.
Pembe Savas obtained her undergraduate degree in Medical Biochemistry from the University of Leicester, UK, in 2011 and further received an MSc degree in Reproductive Science and Women's Health at University College London, UK, in 2012. She has completed her project on pre-implantation genetic diagnosis of beta-thalassemia at Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, in 2012, where she gained hands-on laboratory experience. Since 2013, Pembe Savas is working as a senior instructor at the Department of Biological Sciences, Eastern Mediterranean University, Famagusta, Cyprus, where she is responsible for teaching numerous modules for the Molecular Biology and Genetics program, including Human Genetics. Her research interests include genetic testing in common complex diseases. Furthermore, since 2017 she has been actively involved in the Cyprus Women's Health Research Initiative.
Seniye Targen obtained her undergraduate degree in Human Genetics from Newcastle University, UK, in 2009 and further specialized in the field of Human Molecular Genetics at Imperial College London, UK, in 2010, where she completed a project on X-linked cataract and Nance–Horan Syndrome. Upon completing her graduate degree, she gained experience in private medical diagnostic laboratories. She had been employed as a laboratory instructor in the Department of Biological Sciences at the Eastern Mediterranean University, Famagusta, Cyprus, from 2013 to 2015. Currently, she is working toward a PhD degree in Molecular Biology and Genetics Department with particular focus on breast cancer biology at Bilkent University, Ankara, Turkey.
Yagmur Esemen is currently working as a Foundation Year Two Doctor at Charing Cross Hospital, London, UK. In 2013, she completed her undergraduate degree in Neuroscience and Biology with honors at Lawrence University, WI, USA. As an undergraduate, she has been involved in various research projects in the fields of neuroscience, molecular biology, and genetics. In 2011, she spent a summer at Mayo Clinics, Rochester, MN, USA, studying the effects of Bro1 family members on Vps4 activity. Her senior thesis, completed in 2013, was on investigating the neural targets of DAF-19 in Caenorhabditis elegans, which was awarded Summa Cum Laude honors. She has received several awards including the Howard and Helen Russell Award for Excellence in Biological Sciences. Between 2013 and 2014, she worked as a laboratory instructor at the Department of Biological Sciences, Eastern Mediterranean University, Famagusta, Cyprus. She obtained her Bachelor of Medicine, Bachelor of Surgery degree with distinction from St. George's University of London, UK, in 2018.
Introduction
Human Genetic and Genomics: A Practical Guide provides an introductory source for the ever-evolving fields of human genetics and genomics. Chapters presented in this book will enable the students to learn and understand the basic concepts in human genetics and genomics. In addition, contemporary research, technology, and developments shaping these fields are introduced. The chapters are specifically designed to pique the students' interest in the ever-evolving fields of human genetics and genomics, and are supplemented with exercises.
The book is structured as a practical guide, with a general framework, and could be used as an individual source or could be supplementary to any standard human genetics textbook used for any introductory human genetics course for university students, as well as advanced high school students.
Each chapter begins with a list of learning outcomes. This section introduces the reader to the learning objectives of the chapter. Learning outcomes are followed by introductory background text, which provides the reader with theoretical background information about the topic. Depending on the chapter content, this section could include basic scientific concepts, disease information, research results, and necessary visual aids. Background sections cover literature information, as well as contemporary developments and relevant improvements in the field. As each chapter is self-contained, the reader does not need to refer to another source or other chapters within the book.
Background information is followed by Exercise Questions, typically designed to be completed in short sessions. These sessions facilitate easy grasp of human heredity knowledge and contemporary genomics topics, as well as stimulating critical thinking on the subjects. Exercise questions form an active learning part of the Human Genetics and Genomics: A Practical Guide. The final part of each chapter includes Additional Exercise Questions. These questions are designed to facilitate independent study about the information provided in the chapter and about further related topics.
The chapters are arranged such that there is a well-rounded introduction to human genetics and genomics and a challenging approach to develop critical and scientific thinking about the topics in the field.
In Chapter 1, Exploring Online Genetics Sources, readers are introduced to widely used online genetics sources. Through interactive exercises, they learn to utilize various genetics tools available on the World Wide Web. These include directed navigation through National Center for Biotechnology Information (NCBI)'s databases. Custom-designed exercises allow readers to familiarize themselves with commonly used sources such as PubMed and GeneDB. Exercises lead the readers to learn how to search and gather information on genes and diseases. Additionally, this chapter includes a list of popular online genetics sources and their associated URLs.
In Chapter 2, Observation of Human Inheritance, readers are introduced to genotype and phenotype concepts. By studying monogenic Mendelian traits, they observe inheritance of a number of physical human traits. They study phenotypes including but not limited to, shape of ear lobe, shape of hairline, ability to roll tongue, shape of little finger. All exercises are guided by visual aids of these phenotypes. Further, readers are guided to gather data from the general population and try to assess allelic variation and allele frequencies.
In Chapter 3, Reading, Understanding, and Constructing Human Pedigrees, readers are introduced to inheritance of certain genetic diseases of humans. They first learn the up-to-date symbols of pedigrees and learn how to read pedigrees. Later on they learn about modes of inheritance and study autosomal recessive, autosomal dominant, X-linked recessive, X-linked dominant, and Y-linked inheritance. The chapter goes beyond single-gene inheritance and the readers are introduced to polygenic diseases as well as mitochondrial diseases. Readers are given certain pedigrees and are requested to decipher the mode of inheritance through interactive exercises.
In Chapter 4, Cytogenetics, readers are introduced to cytogenetics and learn how to analyze human chromosomes. They learn about karyotyping, standard staining, and banding patterns. In addition, they are introduced to contemporary techniques including FISH. Online exercises of shuffling and arranging chromosomes enable readers to understand in detail the structures of chromosomes and identify mutations. They learn about terminology including, but not limited to, monosomy, trisomy, and translocation. A list of chromosomal aberrations and definitions is included.
In Chapter 5, Exploring DNA, RNA, Protein Sequence Databases, and Genome Browsers, readers are introduced to molecular sequences. This chapter covers DNA, RNA, and protein sequences. Readers are introduced to bioinformatics and they learn about computational tools used for analysis and interpretation of molecular sequence data. As high-throughput sequence data analysis is now a big part of genetics, readers are introduced to fields such as genomics, transcriptomics, and proteomics.
In Chapter 6, Exploring Online Bioinformatics Tools, readers are introduced to certain bioinformatics and computational tools used for comparing multiple DNA, RNA, or protein sequences to decipher the mutations underlying human diseases and evolutionary relationships between organisms. The effects of various mutations on protein structures and functions are covered with exercises.
In Chapter 7, Multifactorial Inheritance and Common Complex Diseases, readers are introduced to common complex diseases. They learn about human polygenic diseases and the environmental influence on human health. Gene–environment interactions (GxE), epigenetics/epigenomics, and their influence on human development and health are covered. Exercises include work on obesity, diabetes, and cardiovascular diseases, each of which has a very high public health burden worldwide.
In Chapter 8, Neurogenetics and Behavioral Genetics, readers are introduced to a subgroup of common complex diseases, which are of significant public health burden. These diseases include neurological conditions with genetic components, such as Alzheimer's disease. They learn about human behavioral conditions such as depression and schizophrenia, which have a significant genetic component. Through exercises students learn about environmental factors, which together with genetic predisposition cause disease onset.
In Chapter 9, Cancer Genetics, readers are introduced to the genetics of one of the most significant human diseases, cancer. They learn about cell cycle and how it is disrupted in cancer. They learn about familial cancers, specific genes, inheritance, and genetic predisposition. Through exercises, they are able to do risk assessment. They use tools such as breast cancer risk assessment tool. Tumor profiling through sequencing and targeted molecular treatments are discussed.
In Chapter 10, Genetic Counseling, readers are introduced to the field of genetic counseling. Family history taking and constructing pedigrees are covered in detail. Internationally accepted standard protocols used in genetic counseling are studied. Readers could actually practice genetic counseling through simulated sessions and they address diverse cases including Huntington's disease in a family and pre-implantation genetic diagnosis.
In Chapter 11, Evolving Tools in Genome Editing: CRISPR-Cas, readers are introduced to the contemporary genome editing tools. Specifically, the CRISPR-Cas methodology is covered in detail. Applications of this recent technology are discussed. Through exercise questions, readers critically analyze the advantages and disadvantages of genome editing technologies.
In short, through 11 different chapters, Human Genetic and Genomics: A Practical Guide provides an easy to grasp, handy source for the ever-evolving fields of human genetics and genomics. Further, this guide facilitates active learning via its exercise questions content, through which critical and scientific thinking about the topics are stimulated.
1Exploring Online Genetics Sources
Learning Outcomes
Upon completing this practical the student will be able to
easily search for, find, and utilize online genetics sources;
easily navigate through the
National Center for Biotechnology Information
(
NCBI
)'s web page;
start answering biological questions through online sources.
Background
Internet has become a fundamental tool in human genetics and genomics education and research. It provides access to numerous online sources that facilitate data storage, access, and analysis by end users including scientists, students, clinicians, patients, and public readers [1].
Development of online sources for human genetics and genomics began in the 1980s. Since then, online sources providing information and data on genetics and genomics research have been rapidly growing. Internet has become the most popular source for accommodating the most up-to-date research outcomes and innovations in the field [2].
A broad range of genetic and genomic data is available online for access and analysis. Examples include online databases for gene mapping, mapping of chromosomal regions, epigenome mapping, sequence data on DNA, RNA, and protein, species-specific sequence data and comparisons among species, disease-specific data, gene expression data from normal and diseased tissues, genome browsers, and literature information. Utilization of these sources could be tailored to address specific research questions by end users.
One of the most important advances in genetics has been the generation of whole genome sequence data. The availability of whole genome sequences offers a vast array of genetic data on coding regions, noncoding regions, chromosomal structure and gene organization, genes, gene locations on chromosomes, number of genes, number of base pairs, nucleotide sequences, and DNA variants. [3] So far, diverse organisms including species from bacteria, eukarya, and archaea domains have been sequenced. Some of the earlier examples are Haemophilus influenzae (1995), Saccharomyces cerevisiae (1996), and Caenorhabditis elegans (1998) [4–6].
For the purposes of this book, only the human genome project will be detailed.
Human Genome Project
Human genome project, launched in 1990, is an internationally renowned research project. It was constructed to define the genetic, physical, and sequence maps of the human genome by deciphering the entire nucleotide sequence. Revelation of the entire genomic sequence enabled identification of genes dispersed throughout the genome [7, 8].
Access to the complete genome sequence has revealed information on genes, regulatory elements, and chromosomal organization and structure and this has facilitated the start of a new era in the field of human genetics [8].
