Pediatric Genomic Medicine Genomic Medicine Short Course

Genomic Medicine Short Course

Join us Sept. 10 - 13 for hands-on workshops, expert speakers, and a case based-approach to discussions of translational genomics.

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Next generation sequencing has had a profound impact on biomedical research. Clinicians and scientists seeking to stay abreast of the field may be challenged by the rapid rate of genomic discovery and technologic advancement. The Children’s Mercy Center for Pediatric Genomic Medicine, with support of the NIH, offers a four-day CME/CEU program in translational genomics.

Topics include:

  • Technical and analytic aspects of DNA and RNA sequencing 
  • Variant analysis
  • Gene regulation and epigenetics 
  • Single cell sequencing

Clinical and ethical implications of genomics

The course features workshops to teach NGS analysis skills. A unique aspect of the program is the opportunity for enrollees to have genomic sequencing completed on themselves. Participants can use the resultant data file as they learn variant identification and characterization. This strategy, known as Personalized Genomic Educational Testing (PGET) is optional and provided at no additional cost.


This program is supported by the NHGRI Initiative to Maximize Research Education in Genomics: Courses for Skills Development (R25) program. 

Event and Registration Details

Course Dates
The course will commence at 8 a.m. on Monday September, 10 and conclude at 3:30 p.m. on Thursday September 13.

  • Full registration cost: $750
  • Young investigator/in training: $500 
  • Allied health (genetic counselor, nurse, laboratory technologist, etc): $400

Registration for the course is now closed. Please contact us if you would like to receive information on our next course planned for the fall of 2019.

Register for the course

Agenda (PDF)

If you are an international attendee who has been invited, please register by emailing


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Young investigator travel awards

Residents, fellows and junior faculty within 5 years of their terminal degree are eligible for travel awards. Young investigators who receive travel assistance will be asked to participate in an advisement breakfast, whereby they are matched with a senior investigator. The purpose of the breakfast is to encourage young investigators and senior investigators to interact, allowing for the discussion of potential shared research interests, as well as giving junior investigators dedicated time with senior personnel. All registrants will be asked if they would like to participate in the breakfast. Senior personnel will include external course participants as well as CPGM team members. Interested investigators will be matched according to research interests or subspecialty.

Registrants interested in the Young Investigator Travel award should submit a brief statement summarizing why they would like to attend the course and how it will impact their studies accompanied by a letter of support from their current mentor. Letters should be submitted to A maximum of 10 travel awards will be given and applicants will be notified by email with instructions for registration. These $500 awards can be used to cover registration or used toward travel costs.

What to expect


The program will begin with an emphasis on understanding genetic mechanisms of disease. Basic principles of genetics and genomics, such as mitochondrial and nuclear DNA variation and applications of genetic testing modalities are addressed. The course will also cover gene regulation, particularly epigenetics in Mendelian and complex disease. Technical aspects of NGS will be discussed, including sample preparation, assay selection, and sequencing platforms. Foundational bioinformatic topics will include basecalling, alignment, variant detection, and variant annotation.

Current limitations, such as structural variant detection, will be examined. Advances in precision medicine involving pediatric cancer and clinical pharmacology will be covered. Participants will learn about the use of RNAseq and whole genome bisulfite sequencing to detect differences in expression and methylation, and the importance of controlled study design to generate interpretable data. An introduction to data analysis, for expression, transcript detection, and methylation will be covered in advanced workshops.

The curriculum has a multimodal format

  • Lectures and Case-based learning: The core concepts of the course will be taught by program faculty. A “flipped classroom” approach will be utilized for select topics: online content will be available for viewing prior to class to minimize in-class didactic lecturing in favor of discussion and interaction through hands-on activities and case based learning. 
  • Invited speakers. One dinner program will be hosted focused on ethical and social aspects of genomic medicine. A keynote style lecture features an esteemed investigator to discuss a current topic or advance in genomics. 
  • Workshops: Hands-on use of variant analysis software and databases will occur across computer-based workshops. Participants will be guided through the analysis process, starting with a targeted gene panel and progressing to trio analysis of exomes and genomes, detection of heteroplasmic mitochondrial variants, and somatic variation analysis such as tumor/normal comparisons. A dedicated UCSC Browser training workshop will be hosted.  

Who Should Attend

The course is designed for clinician-scientists and researchers who want to gain a deeper understanding of genomics and its applications in basic and clinical studies.

CME and CEU Credit

Children’s Mercy is accredited by the Missouri State Medical Association to provide continuing medical education for physicians.

Children’s Mercy designates this live educational activity for a maximum of 27.5 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

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