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Genomics

The Frontiers Genomics Core (FGC) connects translational investigators with advanced technologies and expertise to support the study of genomic changes across diseases, lifespan, environments, and diverse populations.

Genomics

While the interrogatory tools of genome structure and function have become exponentially more precise and efficient in just the past five years, the infrastructure, procedures, and computational analysis required to generate and understand these vast amounts of data remain beyond the reach of most individual scientists. Equally inaccessible is the expertise to conduct genomics research in an ethical way that balances patient-centered innovation with acceptable risks for participants. Frontiers investigators who collaborate with the FGC receive access to teams of experts at the Genomic Medicine Center at Children’s Mercy Kansas City and the Genome Sequencing Facility at the University of Kansas Medical Center, who will consult on study design and ethical considerations to produce the highest-quality data and ensure they are handled appropriately.

Offers services:

·       Whole exome sequencing

·       Whole genome sequencing

·       Whole genome bisulfite sequencing

·       RNA-seq

·       PGx panel

·       PacBio HiFi long-read whole genome sequencing

·       PacBio Iso-Seq long-read RNA sequencing for isoform expression analysis

·       10x Genomics Single Cell Gene Expression (scRNA-seq)

·       10x Genomics Single Cell ATAC (assay for transposase-accessible chromatin, scATAC-seq)

·       10x Genomics Single Cell Multiome (combined scRNA-seq and scATAC-seq)

·       Sequencing of investigator-provided libraries

Assists with:

·       Study design

·       Ethical, legal, and social issues

·       Sample biobanking

·       Access to bioinformatics tools and support

Genomic Analysis Support

 Access to genomic analyses by translational researchers can be limited by the volume of data generated and by requisite access to proprietary tools and big-data genomics resources. The FGC provides access to necessary workflows and applications through federated access to a cloud-based virtual genome compute platform where researchers can access their own data and have access to common workflows such as alignment, variant detection, and variant annotation. The FGC also serves as a point of entry for Frontiers investigators seeking access to public genomic resources, visualization tools, and consoles for interactive data analysis.

Ethical and Patient-Centered Implementation

The unique nature of genomic data and familial implications of genomic findings require policies and procedures to support balancing innovation and collaboration while maintaining acceptable risks for research participants. The FGC aids Frontiers investigators in navigating a host of ethical, legal, and social issues (ELSI) such as informed consent and assent, enrollment of vulnerable and under-represented populations, and data sharing. Additionally, through consultation or collaboration with an FGC-specific ELSI Advisory Group and Patient and Parent Stakeholder Group, Frontiers investigators can gain support in addressing and studying ethical and social issues that emerge in translational genomics research. The FGC also provides consultation and resources to implement responsible data sharing that protects patient privacy and meets NIH and publisher data sharing requirements.

Genomics Contacts

Image of Dan Louiselle

Dan Louiselle

Genomics Naviagtor

Image of Peter Smith

Peter  Smith, Ph.D.

Genomics Lead - University of Kansas Medical Center

913-588-5970
Image of Tomi Pastinent

Tomi Pastinen, M.D., Ph.D.

Genomics Lead - Children's Mercy Kansas City

Image of Courtney Berrios

Courtney Berrios

MSc, ScM, Consultant Patient-Centered Genomics

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