Faster, Cheaper Way Of Analyzing The Human Genome Developed

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Faster, Cheaper Way Of Analyzing The Human Genome Developed

http://medicalnewscenter.com/out/out.cgi?

http://www.sciencedaily.com/releases/2008/09/080914182547.htm

Investigators at the Translational Genomics Research Institute (TGen)

has recently announced a faster and less expensive way for scientists

to find which genes might affect human health.

Using bar-codes, not unlike what shoppers find in grocery stores,

TGen researchers found a way to index portions of the nearly 3-

billion-base human genetic code, making it easier for scientists to

zero in on the regions most likely to show variations in genetic

traits.

The findings were published September 14 in the online version of the

journal Nature Methods. The study will be published in print in the

journal's October edition.

Dr. Craig, associate director of TGen's Neurogenomics Division,

said the new method should cost only one-tenth, or less, of the

current cost of sequencing genes commonly done to analyze Single

Nucleotide Polymorphisms (SNPs), and in performing Genome-Wide

Association (GWA) studies.

" Our goal is to find the genetic basis of disease,'' said Craig, the

study's lead author. " It (the new method) provides us a way to

immediately use next-generation sequencing technology for studying

hundreds to thousands of individuals.''

Pearson, the head of TGen's Bioinformatics Research Unit, said

the new method would allow scientists worldwide to more easily tune

their sequencing experiments, and conduct their experiments with

greater speed.

" In many cases, rather than sequencing the whole genome for 10

people, researchers would rather sequence a dozen genes for 1,000

people,'' said Pearson, who contributed to the study.

TGen scientists adapted an exciting new technology known as " next

generation sequencing'' to allow samples to be run and analyzed using

15 well-characterized indexes.

" Moving forward, TGen scientists are now attempting to merge this

indexing approach with sequence-capture methods currently under

development in their laboratories, which would likely further improve

the cost savings and speed,'' said Dr. Huentelman, an

investigator in TGen's Neurogenomics Division, who also contributed

to the study.

Depending on assumptions made in an experiment, the desired coverage -

- and as a consequence, the cost -- can vary substantially, the study

said, depending on whether the objective is:

Discovering genetic variants for genotyping by a separate method such

as custom SNP genotyping.

Conducting polymorphism discovery and variant calling within one

sequencing experiment.

Exhaustively resequencing for all common and rare variants.

The new method of analyzing human genetics should enable scientists

at TGen and elsewhere to push ahead with key scientific research

needed to prevent, diagnosis and treat a variety of diseases and

conditions.

" Although whole-genome sequencing may be the primary motivator for

improvements in sequencing technology,'' the study said, " it is clear

that next-generation technologies are immediately useful for focused,

hypothesis-driven sequencing of linkage peaks, groupings of candidate

genes or sequencing the entire known coding sequence of the human

genome.''