NEW YORK, Aug 8 (GenomeWeb News) - The National Human Genome Research Institute is considering turning its sequencing capacity into a mechanism that could pinpoint genetic variations that cause human Mendelian disorders, and is trying to gauge interest for such a program.
Last week, the institute invited scientists involved in this kind of research to say whether sequencing services provided by a large-scale center would benefit them. "The NHGRI is particularly interested in cases in which a major roadblock to completing those projects could be overcome by large-scale sequencing, and where the amount of sequencing required would be prohibitive to the individual investigator," NIGRI said.
For instance, appropriate cases could be those in which a disorder has been mapped to an interval that is too large for an individual to sequence, or where the sequencing of candidate genes has not yielded success, suggesting that the relevant change resides in a noncoding region.
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