Essentials of Medical Genomics
Chapter One
Introduction to
Molecular Genetics
The Human Genome Project is a bold undertaking to understand,
at a fundamental level, all of the genetic information required to
build and maintain a human being. The human genome is the
complete information content of the human cell. This information
is encoded in approximately 3.2 billion base pairs of DNA
contained on 46 chromosomes (22 pairs of autosomes plus the
two sex chromosomes-see Figure 1.1). The completion, in 2001,
of the first draft of the human genome sequence was only the first
phase of this project (Venter et al. 2001; Lander et al. 2001).
To use the metaphor of a book, the draft genome sequence
gives biology all of the letters, in the correct order on the pages,
but without the ability to recognize words, sentences, and punctuation,
or even an understanding of the language in which the
book is written. The task of making sense of all of this raw biological
information falls, at least initially, to bioinformatics specialists
who make use of computers to find the words ... read full excerpt from Essentials of Medical Genomics ebook
