Whole genome optical mapping results

Whole genome optical mapping results show 3q duplication and 10q deletion present in child but absent in mother1


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.