NEW YORK (GenomeWeb News) – The National Human Genome Research Institute plans to fund one or two new centers that will focus on using genome-wide sequencing and other genomics studies to discover the genetic variants behind many single-gene mutation Mendelian disorders.
NHGRI plans to use $10 million next year to fund the centers, which will use genomics to uncover the genetic basis for as many Mendelian disorders and other health-related Mendelian phenotypes as possible. The goal is to create a foundation of knowledge that the entire research community will be able to turn to for research into the genetic basis of all Mendelian disorders.
These Mendelian Disorders Genome Centers will undertake efforts in two core areas. They will develop and run a production pipeline for conducting sample acquisition, sequencing, and other genomic studies, and data analysis focused on the genetic variants underlying Mendelian disorders. This will involve development and dissemination of efficient approaches to identifying these genetic variants, and discovering how useful Mendelian phenotypes are for various new genomic approaches.
The centers also will create a comprehensive public list of Mendelian disorders and other health-related Mendelian phenotypes that will provide information about available samples and sequencing status, as well as other relevant information.
The centers will "establish and refine the most effective and efficient designs, technologies, and analysis methods for elucidating the genetic basis of Mendelian phenotypes," which will require that they balance "cost, efficiency, and quality," according to NHGRI's request for applications.
The centers also will disseminate the knowledge they develop about Mendelian disorders to the wider research community in order to accelerate progress of research in these areas.
These centers also will need to develop a plan for pulling together a resource of samples. NHGRI wants the centers to create a public list of existing samples that will serve as a resource that will be annotated and will be used by investigators who are interested in studying particular phenotypes.
The resource will need to be annotated to include information for monitoring the progress being made and the challenges that remain in this area, and function as a coordination point for the research community. Such a resource could include information about sample custodians, availability, what samples are being sequenced and by whom, and basic information about consent, diagnosis, and key phenotypes.