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A New Human Genome Sequence Paves the Way for Individualized Genomics 英文参考文献
A New Human Genome Sequence Paves the Way for Individualized Genomics
Liza Gross | doi:10.1371/journal.pbio.0050266
Just six years ago, two draft versions of
the human genome were published, an
achievement widely hailed as one of the
most audacious scienti?c undertakings
in history. Both of these versions are
composite sequences derived from
the haploid genomes—the single set
of 23 chromosomes packaged into
the sperm or egg of each parent—of
(mostly) anonymous donors. But
now, one of the principals behind the
private human genome initiative has
taken the next logical, albeit risky, step:
sequencing his own genome. J. Craig
Venter, whose technical innovations
at Celera helped complete the draft
sequences far ahead of schedule,
published his entire genome in
the draft human genome. Brie?y,
the shotgun sequencing approach
randomly shreds genetic material into
millions of fragments, called “reads,”
each of which is sequenced and then
reassembled using a computer (based
on sequence similarity), which matches
up overlapping reads and merges them
into longer sequences. By re?ning the
software algorithms of the computer
assembler (to respect the distinct
paternal allelic contributions) and
increasing the number of times they
repeated the sequencing (to enhance
data accuracy), the researchers
decreased the number of gaps in the
assembly to produce a high-quality
draft diploid genome sequence.
Assembling the sequences in the
proper order and location along the
chromosomes was guided in part
by comparing the HuRef sequence
with the composite human sequence
assemblies.
collaboration with 30 colleagues in this
issue of PLoS Biology.
By placing his genome in the
public domain, Venter runs the risk
of divulging intimate personal details,
including any current and future
genetic markers for disease—a risk that
extends to his family. He has done so,
in part, to stimulate efforts to develop
cheaper sequencing technology and
usher in a new era of individualized
genomic medicine. Ven
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