High throughput single molecule approaches for phased genome sequence assembly (R01 HG005946)
The major goals of this project are (1) to produce, efficiently and at low cost, phased genome sequence assemblies of all 26 ethnic groups from the 1000 Genomes Project to serve as general references for the community; (2) further develop single molecule analysis platform for clinical diagnosis and the study of repetitive elements.
Collaborator: Ming Xiao, Drexel University
Next Generation Mapping of Complex Genomic Regions involved in Recurrent Structural Variations (R01 GM120772)
The goal of this project is to use state-of-the-art genomic technologies to map and sequence complex regions of the genome that underlie recurrent genomic rearrangements associated with human diseases.
Collaborator: Tamim Shaikh, University of Colorado at Denver
Investigation of DUF1220 domains in human brain function and disease (R01 MH108684)
The goal of this project is to use a genome mapping strategy to confirm the DUF1220 copy number status of patients with autism.
Collaborator: James Sikela, University of Colorado at Denver
Genomic sequencing to aid diagnosis in pediatric and prenatal practice:
Examining clinical utility, ethical implications, payer coverage, and data integration in a diverse population (U01 HG009599)
The goal of this project is to study the effectiveness of sequencing as a tool for 1) diagnosing infants and children with serious developmental disorders, and, 2) providing genetic information to parents when a prenatal study reveals a fetus with a structural anomaly. It will also address the ethical implication of sequencing as a clinical diagnostic tool.
Collaborators: Joseph Hsieh, Barbara Koenig, Mary Norton, Kathryn Phillips, Neil Risch, and Anne Slavotinek
Full Genome Analysis to Guide Precision Medicine (California Initiative to Advance Precision Medicine)
The goal of this project is to develop methods that improve our ability to identify mutations that cause inherited diseases and to find the cause of previously difficult to diagnose genetic conditions using the full genome analysis approach that provides a more complete picture of abnormalities in an individual’s DNA.
Collaborators: Dario Boffeli, David Martin, Steven Brenner, Anne Slavotinek, Ophir Klein, Joseph Hsieh, Renata Gallagher
Sequencing of newborn blood spot DNA to improve and expand newborn screening (U19 HD077627)
The major goals of this project are to perform whole exome sequencing on 1500 newborn blood spot DNA samples with TREC+ primary immunodeficiencies or inborn metabolic disorders to identify variants that cause the diseases.
Collaborators: Barbara Koenig, Jennifer Puck, Steve Brenner, Sean Mooney, and Neil Risch
Taiwan Precision Medicine Initiative (Academia Sinica, Taiwan)
The goal of this project is to obtain genetic profiles of 1 million Taiwan subjects and to utilize genetic information in clinical management. Funding is to build the infrastructure for data management and analysis.
Collaborators: Yuan-Tsong Chen and Jer-Yuarn Wu
Resource-based Center for the Advancement of Precision Medicine in Rheumatology: Genomics and Molecular Resources Core (P30 AR070155)
The GMR Core goal is to facilitate researchers’ access to biospecimens from well-characterized rheumatic disease patients, and providing consultative and coordination services to ensure appropriate use of genomics, proteomics, and other molecular technologies.
Collaborators: Lindsey Criswell and Jimmie Ye