A
activities (Inquire & Investigate) To Catch a Thief, 108–109
Create a Personalized Medicine Brochure, 76–77
Cut With Molecular Scissors, 106–107
Decoding DNA’s Message, 22
Extract DNA from a Strawberry, 7
Genome Testing for the Athlete, 105
How Big Is Your Genome?, 39
How Mutations Occur, 56
Investigate Genetic Variation, 54–55
Natural Selection, 90
Pharmacogenomics: How the Genome Affects Drug Response, 74–75
Spot a Cancer Mutation, 78
autoimmune diseases, 16, 17, 64, 70, 99
automatic sequencing machines, vi, 27, 29
B
C
Caenorhabditis elegans genome, vii, 31
cancer, 17, 33, 51, 61, 64–68, 69–70, 72, 78, 98–99, 101
cells
cell cycle/cell division, 13
definition of, 10
genes in, 4–5, 7, 10–17, 19–21. See also DNA; genes
number and types of, 10–11, 19
structure of, 11
Chargaff, Erwin, 19
chromosomes, 14–16, 30, 31, 33, 45, 49
circulating tumor DNA (ctDNA), 64
clone-by-clone sequencing, 25–26
CODIS (Combined DNA Index System), 95
crime scene analysis, vi, 94–95, 101, 102, 108–109
cystic fibrosis, vi, 36, 59, 67, 101
D
denaturing and synthesizing, 32
direct-to-consumer genomic testing, 95–97, 105
DNA (deoxyribonucleic acid) ancient, vi–vii, 81, 82–86, 88
cells containing, 4–5, 7, 10–17, 19–21
circulating tumor, 64
definition of, 7 denaturing and synthesizing, 32
editing or changing, vii, 99–102, 106–107
external/environmental influences on, 17–18, 47, 49, 51, 56, 62–63, 67, 97–99
forensic crime scene analysis with, vi, 95, 101, 102, 108–109
genetic variations in, 47–49, 54–55, 68–69, 87–89
genome made of, 4–5, 39. See also human genome
health and. See health and disease
mutated, vii, 38, 51–52, 56, 58–62, 64–70, 72–74, 78, 87–89, 99–102
noncoding, 5, 30, 43, 44, 45–46
PCR technology copying, vi, 31–32
replication of, 13
sequencing, vi, 25–30, 36–37, 78
E
ENCODE (Encyclopedia of DNA Elements), vii, 45–46
epigenetics, 97–99. See also external/environmental influences
Ethical, Legal, and Social Implications (ELSI) Research Program, 103
evolution. See human evolution
exons, 44
external/environmental influences, 17–18, 47, 49, 51, 56, 62–63, 67, 97–99
food and nutrition, 18, 88–89, 93–94
forensic crime scene analysis, vi, 94–95, 101, 102, 108–109
Fraser, Claire, 29
G
genes. See also DNA; human genome
C. elegans, 31
cells containing, 4–5, 7, 10–17, 19–21
chromosomes and, 14–16, 33, 45. See also chromosomes
definition of, 4
editing or changing, vii, 99–102, 106–107
external/environmental influences on, 17–18, 47, 49, 51, 56, 62–63, 67, 97–99
gene annotation, 43
gene prediction, 43
gene regulation, 16–17, 46, 63
genetic adaptations, 81–82, 88–89
genetic diseases, vi, 58–61, 69, 98–99
genetic traits, 11, 17–18, 81–82, 84, 86–90. See also physical traits
genetic variations, 47–49, 54–55, 68–69, 87–89
health and. See health and disease
inheritance of, vi, 4, 11, 14, 16, 81–82, 84
mutated, vii, 38, 51–52, 56, 58–62, 64–70, 72–74, 78, 87–89, 99–102
Genetic Information Nondiscrimination Act (2008), 103
genome browser, 46
genome-wide association study (GWAS), 72–73
genomic medicine, 68–70, 97. See also pharmacogenomics
genomics, 4. See also human genome
GMOs (genetically modified organisms), 93–94
H
Haemophilus influenzae genome, vi, 29–30
haplotypes, 49
health and disease. See also specific diseases
bioinformatics data management on, 53
comparative genomics and, 49, 51
discrimination for potential issues of, 103
external/environmental influences on, 18, 51, 56, 62–63, 67, 98–99
food and nutrition, 18, 88–89, 93–94
gene mutations and, vii, 38, 56, 58–62, 64–70, 72–74, 78, 87–89, 99–102
genetic diseases, vi, 58–61, 69, 98–99
genetic traits and, 17, 18, 87–89
genetic variations and, 47, 49, 68–69, 87–89
genome editing and, vii, 99–102
genome-wide association study on, 72–73
genomic medicine for, 68–70, 97. See also pharmacogenomics
H. influenzae genome and, 29–30
human genome applications to, 33, 36–38, 43, 46, 57–78, 87–89, 92, 96–102
personalized medicine for, 68, 72, 76–77
pharmacogenomics and, 71–72, 74–75
human evolution
ancient DNA telling story of, vi–vii, 81, 82–86, 88
definition of, 81
fossils and archaeological evidence of, 81–87
genetic adaptations and, 81–82, 88–89
genetic mutation and diversity with, 87–89
genetic traits and, 81–82, 84, 86–90
human genome and, vi–vii, 79–90
migration path and, vii, 85–87
natural selection and, 88, 89, 90
human genome. See also DNA; genes
bioinformatics data management on, 52–53
comparison to other genomes, 49–52
definition of, 2
exons and introns in, 44
future applications of, 91–109
genome browser/database, 46
genome editing, vii, 99–102, 106–107
genome map of, vi–vii, 33–39. See also Human Genome Project; 1000 Genomes Project
health improvements using. See health and disease
history of mapping, vi–vii, 5–6, 23–39
human evolution and, vi–vii, 79–90
information in/from, 4–5, 41–56
noncoding regions of, 5, 30, 43, 44, 45–46
personal or direct-to-consumer testing of, 95–97, 105
public vs. private access to data on, 35–37, 45
sequencing, 25–30, 36–38, 52, 65–68, 78
shared vs. distinct elements of, 3, 46, 47–52, 86
size of, 39
smaller genomes sequenced before, vi–vii, 29–31
Human Genome Project (HGP)
bioinformatics data management in, 53
ELSI Research Program, 103
funding for, 36
future studies building on, 92
PCR technology in, 32
I
informed consent, 103
Innocence Project, 101
International HapMap Project, vii, 47–49, 73
introns, 44
M
Miescher, Johann Friedrich, vi, 15
mitosis, 13
mutated genes, vii, 38, 51–52, 56, 58–62, 64–70, 72–74, 78, 87–89, 99–102
N
nanopore DNA sequencing, 25
nucleosomes, 14
nucleotides, 12, 13, 19–20, 24, 48–49, 51
O
1000 Genomes Project, vii, 43, 44, 88
P
PCR (polymerase chain reaction) technology, vi, 31–32
personal genomic testing, 95–97, 105
personalized medicine, 68, 72, 76–77
pharmacogenomics, 71–72, 74–75
physical traits, 2, 4, 15–16, 17–18, 52, 54–55, 81–82, 86, 102
PopHumanScan project, 88
proteins, 4–5, 11, 12, 14–16, 19–20, 22, 30, 44, 45–46, 51, 61, 97–98, 100
Punnett square, 17
R
RNA (ribonucleic acid), 20, 44
S
Sanger sequencing method, vi, 26–27, 37
selective sweep, 52
single nucleotide polymorphism (SNP), 48–49, 74
T
telomeres, 15
U
UniProt database, 22
Universal Genetic Code, 22
uracil, 20
V
W
Waterston, Robert, 33
Wilkins, Maurice, 19