Clinical Precision Medicine: A Primer

Clinical Precision Medicine: A Primer
Copyright
Contributors
1. Cytogenetics in precision medicine
	Cytogenetic techniques
	G-banding (karyotype) analysis
	Chromosome abnormalities
	Further reading
2. Molecular genetics—the basics of gene expression
	Replication
		DNA repair
	Transcription
	RNA processing
	Protein translation
	Regulation of gene expression
		Pretranscriptional gene regulation
	Posttranscriptional regulation
	The role of mutations in altering gene expression and protein function
	Mutations, gene expression, and precision medicine
3. Fundamentals of epigenetics
	Introduction
	Histone modifications and variants
	DNA methylation
	Genomic imprinting
		Prader-Willi/Angelman syndrome region
	Noncoding RNAs and microRNAs
	X chromosome inactivation
	Conclusions
	References
4. Fundamentals of heredity
	Introduction
		Pedigrees
		Autosomal dominant
		Autosomal recessive
		X-chromosome inactivation and X-linked inheritance
		Y-linked inheritance
	Mitochondrial inheritance and variable heteroplasmy
		Complications to Mendelian inheritance
	Conclusion
	References
5. Clinical genetics
	Prenatal genetic testing/screening
	Pediatric genetics
	Adult and specialty clinics
	Genetic counseling
	Further reading
6. Pharmacogenomics
	Introduction
	DNA variants
	DNA variants and pharmacology
	CYP variants in anticoagulant therapies
		Warfarin
		Clopidogrel
	DNA variants in drug transporters
	DNA variants in enzymatic pathways
	Drug development and clinical trials
	Conclusions
	References
7. Immunogenomics: steps toward personalized medicines
	Introduction
	Immune activation and exhaustion
	Cancer immunotherapy
		Checkpoint blockers
		Combinatorial approaches
		Chimeric antigen receptor T cell therapy
		Oncolytic virus therapy
		Cancer vaccines
	The technologies of immunogenomics
		T cell receptor and B cell receptor sequencing
	Role of precision medicine in immunogenomics
	Conclusions
	References
8. Technology of clinical genomic testing
	Introduction
	The Human Genome Project
	Next-generation sequencing
	Whole-exome sequencing
	Panels
	Single-gene resequencing
	ELSI and GINA
	Conclusions
	Reference
Index
	A
	B
	C
	D
	E
	F
	G
	H
	I
	K
	L
	M
	N
	O
	P
	R
	S
	T
	U
	V
	W
	X
	Y