CORE LEADERSHIP AND ADMINISTRATION
Director: Mary Putt, Ph.D., Sc.D. (firstname.lastname@example.org)
Co-Directors: Hakon Hakonarson, M.D., Ph.D. (email@example.com) & Douglas Wallace, Ph.D. (firstname.lastname@example.org)
Co-Investigators: Marcella Devoto, Ph.D., Rui Xiao, Ph.D., & Patrick Sleiman, Ph.D.
RNA Profiling Specialist: John Tobias, Ph.D.
MITOMAP Curator: Marie Lott, M.A.
The Biostatistics and Bioinformatics Core (BBC) provides comprehensive and expert analytic tools for IDDRC users who require support in biostatistics, experimental design and/or the analysis of the large datasets culled from DNA sequencing and cognate technologies.
- Evaluate the feasibility and validity of proposed designs, including animal studies, clinical trials, human epidemiologic studies and investigations using high throughput genomic technologies. Estimate sample size, statistical power and precision.
- Consult on the development of data collection and management tools.
- Develop statistical analysis plans.
- Provide consultation and collaboration on statistical analyses, including methods in longitudinal and repeated measures analyses
- Adapt or develop and evaluate new statistical approaches to address problems not adequately covered by current methods.
- Promote the appropriate documentation needed for reproducible analyses.
- Optimal choice of platform for data generation
- Design of studies that utilize the CAG genotyping and sequencing database
- Choice and provision of cost-effective computational facilities
- Guidance on choice, as well as appropriate and efficient use of analysis pipelines
- Supports the analysis of mitochondrial DNA (mtDNA) variants through the MitoMap system (http://mitomap.org)
- Interpretation of the mtDNA sequences arising from their research. Specifically, this includes identification of nucleotide variants relative to the rCRS, determination of haplogroup and species conservation information. Information supported includes user-supplied sequences, GenBank identifiers and single nucleotide variants.
- Identification of contamination of legitimate mtDNA sequence data with NUMTs
- Participate in IDDRC Network to advance agenda of IDD Branch of NICHD
- Promote recruitments of high-quality investigators in field of IDD-related research
- Foster inter-disciplinary IDD-related research by working with Administration to create Centers of Excellence
- Collaborate with community support/patient groups, to:
- Advocate for their needs
- Sponsor educational seminars for a lay audience
- Create and support opportunities for families to gather and exchange information
- Advise support groups regarding latest scientific advances
- Work with departments of health (NJ, PA, DE) to improve newborn screening services for inherited disease.