6 billion nucleotides
23 chromosome pairs
~ 2% protein coding
"Significant advances in science are taking place, but translating them
into clinical treatments for an array of human diseases is being
hampered by public policies that are not aligned with the public good." (Source)
"Rapid advances in high-throughput genome sequencing technologies
foreshadow a near-future in which millions of individuals will gain
affordable access to their complete genome sequence. This promises to
offer unprecedented insights into the fundamental biological nature of
ourselves and our species: where we came from, how we begin our lives,
how we develop and grow, how we interact with our environment, how we
get sick, how we get well, and how we age. Personal genomics is an
essential component of the inevitable transition towards personalized
health and medicine.
As the medical establishment begins to explore and
evaluate the role of personal genomics in health and medicine, both
clinicians and patients alike will gain from becoming well versed in
both the power and the pitfalls of personal genomic information.
Furthermore, it is likely that all students of the biomedical sciences
will soon be required to gain crucial understanding in the emerging
field of personal genomics.
Exploring Personal Genomics provides a
novel, inquiry-based approach to the understanding and interpretation of
the practical, medical, physiological, and societal aspects of personal
genomic information. The material is presented in two parts: the first
provides readers of all backgrounds with a fundamental understanding of
the biology of human genomes, information on how to obtain and
understand digital representations of personal genomic data, tools and
techniques for exploring the personal genomics of ancestry and
genealogy, discovery and interpretation of genetic trait associations,
and the role of personal genomics in drug response. The second part
offers more advanced readers an understanding of the science, tools, and
techniques for investigating interactions between a personal genome and
the environment, connecting DNA to physiology, and assessing rare
variants and structural variation. This book aims to support
undergraduate and graduate studies in medicine, genetics, molecular
biology, and bioinformatics. Additionally, the design of the content is
such that medical practitioners, professionals working in the biomedical
sciences or related fields, and motivated lay individuals interested in
exploring their personal genetic data should find it relevant and
approachable."
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