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Accurate, Low-Cost Individual Genome Sequencing Possible

May make personalized medicine possible

THURSDAY, Nov. 6 (HealthDay News) -- New sequencing techniques are allowing accurate and low-cost sequencing of individual genomes, including those of an African man and a Chinese individual, which may make personalized medicine possible, according to the results of two studies published in the Nov. 6 issue of Nature.

In the first study, David R. Bentley, Ph.D., from Illumina Cambridge Ltd. (formerly Solexa Ltd.) in Little Chesterford, United Kingdom, and colleagues developed a massively parallel synthetic sequencing approach that could accurately, rapidly and economically sequence several billion bases. The technique was initially used to sequence the X chromosome of a white female, then used to sequence the genome of a male Yoruba from Ibadan, Nigeria. An accurate consensus sequence was assembled in eight weeks from a greater than 30-fold average depth of paired 35-base reads rather than the traditional 400-800 base pair reads.

In the second study, Jun Wang, from the Beijing Genomics Institute at Shenzhen, China, and colleagues used massively parallel sequencing technology to sequence the genome of a Han Chinese individual at an average redundancy of 36-fold using short reads and the available human genome sequences as references. High-quality sequence was obtained for 92 percent of the individual's genome. The authors identified approximately 3 million single nucleotide polymorphisms, of which 13.6 percent were unknown. The sequence could be obtained in one to two months at a cost of less than $500,000, they note.

"Ultimately, we predict an increase in the number of people who will be able to afford having their own genomes sequenced," Wang and colleagues conclude. "Personal genome sequencing may eventually become an essential tool for diagnosis, prevention and therapy of human diseases."

Two of the authors of the first study are inventors and founders of Solexa Ltd.

Abstract - Bentley
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Abstract - Wang
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