The Genomics Core supports research focused on the role genetic factors play in atypical physical, cognitive, and behavioral development. Supported research focuses on etiology, natural history, and prognosis of a variety of conditions associated with developmental delay, neuropsychiatric disorders affecting children, and behavioral and physical features of developmental disabilities. The consultation services provided by the Genomics Core include:
- Developing protocols for IRB review
- Information for researchers and clinicians about available genomics technologies
- Guidance in preparing grant applications.
Genomics services include:
- Cell line establishment and tissue culture
- Cytogenetic analysis, namely karyotype and fluorescence in situ hybridization
- Single nucleotide polymorphism (SNP) microarray
- Next-generation sequencing (NGS) technologies including whole exome sequencing (WES), whole genome sequencing (WGS), RNA-seq, and others
- Bioinformatics support (sequence analysis, compute resources, data interpretation)
- Practical Genomics workshop (4 day intensive workshop on Linux, R in genomics)
The core also serves as an interface for IDDRC-supported projects with the resources of other Genetics Core facilities established within the Johns Hopkins Medical Institutions, including current-generation sequencing.