What question did this study set out to answer?

To overcome the cost and time limitations of sequencing the 6-gigabase diploid human genome using next-generation massively parallel sequencing technology.

April 1, 2008NatureOpen Access

The complete genome of an individual by massively parallel DNA sequencing

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Authors

DWDavid A. WheelerUniversità Cattolica del Sacro Cuore MSMaithreyan SrinivasanAdvanced Cell Diagnostics (United States)MMMichael D. MillerPall Corporation (United States)

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Implication

Pilot sequencing study demonstrates rapid, low-cost whole-genome assembly in an individual, indicating the feasibility of personalized genomic medicine.

Key Points

To overcome the cost and time limitations of sequencing the 6-gigabase diploid human genome using next-generation massively parallel sequencing technology.
Sequenced the diploid genome of a single individual (James D. Watson) to 7.4-fold redundancy over a two-month period.
Utilized cell-free massively parallel DNA sequencing within picolitre-sized reaction vessels to circumvent bacterial cloning biases.
Mapped and compared obtained sequences against the reference human genome to identify single nucleotide variants, indels, and structural rearrangements.
Identified 3.3 million single nucleotide polymorphisms, including 10,654 variants resulting in amino-acid substitutions within coding sequences.
Mapped small insertions and deletions (2 to 40,000 base pairs) along with copy number variations spanning 26,000 to 1.5 million base pairs.
Achieved genome completion in two months at approximately one-hundredth of the cost of capillary electrophoresis, while uncovering novel human sequences and genes.

Cite This Study

Wheeler et al. (2008) studied this question.

synapsesocial.com/papers/69db868f78a3e0e28868530f https://doi.org/10.1038/nature06884

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Implication

Pilot sequencing study demonstrates rapid, low-cost whole-genome assembly in an individual, indicating the feasibility of personalized genomic medicine.

The complete genome of an individual by massively parallel DNA sequencing

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Implication

Key Points

Cite This Study

The complete genome of an individual by massively parallel DNA sequencing

Discussion

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Implication

Key Points

Cite This Study

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