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"Your genome is an email attachment" What a difference a few years
can make? In 2001, to a global fanfare, the completion of the frst
draft sequence of the human genome was announced. This had been a
Herculean effort, involving thousands of researchers and millions
of dollars. Today, a project to re-sequence 1,000 genomes is well
underway, and within a year or two, your own "personal genome" is
likely to be available for a few thousand pounds, a price that will
undoubtedly decrease further. We are fast approaching the day when
your genome will be available as an email attachment (about 4 Mb).
The key to this feat is the fact that any two human genomes are
more than 99% identical, so rather than representing every base,
there is really only a requirement to store the 1% of variable
sequence judged against a common reference genome. This brings us
directly to the focus of this edition of Methods in Molecular
Biology, Genetic Variation. The human genome was once the focus of
biology, but now individual genome var- tion is taking the center
stage. This new focus on individual variation ultimately democ-
tizes biology, offering individuals insight into their own
phenotype. But these advances also raise huge concerns of data
misuse, misinterpretation, and misunderstanding. The immediacy of
individual genomes also serves to highlight our relative ignorance
of human genetic variation, underlining the need for more studies
of the nature and impact of genetic variation on human phenotypes.
"Your genome is an email attachment" What a difference a few years
can make? In 2001, to a global fanfare, the completion of the frst
draft sequence of the human genome was announced. This had been a
Herculean effort, involving thousands of researchers and millions
of dollars. Today, a project to re-sequence 1,000 genomes is well
underway, and within a year or two, your own "personal genome" is
likely to be available for a few thousand pounds, a price that will
undoubtedly decrease further. We are fast approaching the day when
your genome will be available as an email attachment (about 4 Mb).
The key to this feat is the fact that any two human genomes are
more than 99% identical, so rather than representing every base,
there is really only a requirement to store the 1% of variable
sequence judged against a common reference genome. This brings us
directly to the focus of this edition of Methods in Molecular
Biology, Genetic Variation. The human genome was once the focus of
biology, but now individual genome var- tion is taking the center
stage. This new focus on individual variation ultimately democ-
tizes biology, offering individuals insight into their own
phenotype. But these advances also raise huge concerns of data
misuse, misinterpretation, and misunderstanding. The immediacy of
individual genomes also serves to highlight our relative ignorance
of human genetic variation, underlining the need for more studies
of the nature and impact of genetic variation on human phenotypes.
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