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Mendelian disorder

By Monica Heger
As exome sequencing quickly becomes the method of choice for diagnosing rare conditions, a number of academic groups and companies have launched tests in recent months and are reporting their first successes.

By Monica Heger

This article was originally published Dec. 6.

The International Rare Disease Consortium's goal is to develop diagnostics for all 6,000 to 8,000 known rare diseases and develop therapies for 200 of those by 2020. As part of the project, NHGRI will support exome sequencing of Mendelian diseases under a previously announced program that will fund two centers for a total of $40 million over four years.

RainDance said that the autism spectrum disorder panel, ASDseq, offers 92 percent design coverage across 62 genes known to be associated with autism spectrum disorders, while the XSeq panel covers 98 percent of the more than 1,000 genes on the X chromosome.

"A key ethical question is, when you do this next-gen whole-genome sequencing, do you return that information back to the families and patients? A part of this project is to study that question," said Poul Sorensen of the BC Cancer Agency.

While the use of sequencing in disease research for both Mendelian and complex diseases continued to advance during the year, 2010 also saw the launch of several sequencing-based diagnostic tests, as well as pharmaceutical companies entering the sequencing field and the first examples of sequencing being used to make decisions on patient treatment.

The institute will fund one or two Mendelian Disorders Genome Centers to serve as resources for samples and knowledge and to conduct genome and exome sequencing projects.

In all, the expansion of NHGRI's large-scale sequencing program will award approximately $111.5 million per year over the next four years.

The new program will maintain its sequencing centers grants, but will be expanded to include clinical sequencing, bioinformatics, and Mendelian disorder research.

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