Mendelian Disorders Genome Centers (U54)

archived

This FOA seeks to establish a center or centers that will use genome-wide sequencing and other genomic approaches to discover the genetic variants underlying Mendelian disorders and other health-related Mendelian phenotypes in human. The centers should aim to uncover the genetic basis for as many of these phenotypes as possible with the funds available during the funding period. More generally, NHGRI intends that this effort will provide a foundation for the broader research community to elucidate the genetic basis of all Mendelian disorders, and to that end this FOA has two additional purposes that are outlined below. First, this FOA seeks to establish and refine the most effective and efficient designs, technologies, and analysis methods for elucidating the genetic basis of Mendelian phenotypes. This will necessitate balancing cost, efficiency, and quality. NHGRI expects that the data obtained by the funded projects will help determine the range of tractability of Mendelian phenotypes to state-of-the-art genomic approaches. NHGRI intends that this knowledge will be disseminated to the broader community working on these phenotypes, so that progress towards a comprehensive understanding of the genetic basis of Mendelian disorders will be accelerated.

High