New Strategy For Finding Disease Genes

May 6th, 2015
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Science News Researchers Sequence 'Exomes' Of 12 People; New Strategy For Finding Disease Genes

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Science NewsShare Blog CitePrint Email BookmarkResearchers Sequence 'Exomes' Of 12 People; New Strategy For Finding Disease GenesScienceDaily (Aug. 17, 2009) In a pioneering effort that generated massive amounts of DNA sequence data from 12 people, a team supported by the National Institutes of Health (NIH) has demonstrated the feasibility and value of a new strategy for identifying relatively rare genetic variants that may cause or contribute to disease. The proof-of-concept findings were published online in the journal Nature.See Also:Health & MedicineGenesHuman BiologyPersonalized MedicineDiseases and ConditionsGene TherapyGastrointestinal ProblemsReferenceHuman Genome ProjectHuman genomeVector (biology)BioinformaticsThe new strategy involves isolating and sequencing all exons which are the parts of the human genome that contain the information needed to produce proteins, the building blocks of the body. The complete set of exons referred to as the "exome" makes up only one percent of the human genome. By selecting only the exome to sequence, the important information about an individual can be obtained at a much lower cost than sequencing a person's entire genome. Assessment of the results of exome sequencing is based on knowledge of the genetic code and allows for a more informative interpretation of genetic variants. Using the exome strategy, like other methods of direct DNA sequencing, investigators also can detect rare v

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