Close Menu

Mendelian disorder

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.

For Complete Genomics, which provided the sequencing data for ISB's study, the project provides the first independent validation of its sequencing service by an early-access customer.

Broad Institute Founder Eric Lander outlined the past and future of cancer genome research this weekend at the American Association for Cancer Research meeting.

Pages

Genetic genealogy has helped exonerate a man who has been jailed for 20 years, Agence France Presse reports.

NPR reports that many USDA researchers working at the two agencies that are relocating to the Kansas City area are declining to go.

A new report says genetically modified food might be necessary to be able to feed a planet of nearly 10 billion people, Bloomberg says.

In Nature this week: new RNA editing approach called LEAPER, draft assembly of Musa balbisiana banana genome, and more.