Nationwide Children's The Ohio State University

Road to Collaboration:
Human Genetics and Genomics Community

Presentation Abstracts

Presentation Abstracts

May 20, 2014
Symposium I Archives:
Presentation Slides
Poster Abstracts
Working with Data on the -omic Scale
Peter White, PhD

The increasing availability of -omic data presents a number of challenges for data storage, management, and processing. Increasingly complex technologies are required to overcome these challenges, meaning that working with -omic data requires high-performance computing infrastructure as well as expertise in systems architecture and software development. Both of these factors may present a significant barrier for individual labs wishing to work with -omic data but can be effectively addressed by leveraging shared resources. Dr. White will provide a brief introduction to the challenges posed by -omic data, present opportunities for leveraging existing local expertise and infrastructure, and provide suggestions for future growth to the Columbus genetics community.

New methods for haplotype-resolved whole genome sequencing
David Symer, MD, PhD

The human genome is diploid, but currently available reference genome sequences are haploid. Next generation sequencing data from individual DNA samples can be used to identify distinct alleles across the genome, but they do not resolve haplotypes at long genomic distances. In this brief talk, Dr. Symer will discuss the compelling biological and genetic rationales for resolving haplotypes at a genome-wide scale. He then will discuss several distinct new technical approaches to sequence, analyze and resolve long-range haplotypes.

Accessing Large Datasets
Kate Hartmann, Current MD/PhD Student

Kate Hartmann will present issues in working with large data sets that have been collected through either population studies or disease-specific populations. These can provide invaluable resources for further research, however, obtaining access to these datasets can be extremely challenging, with a maze of uncoordinated, obscure and difficult-to-manage barriers. Kate Hartmann will review the approach of the pharmacogenomics group at OSU and their systematic and successful navigation of these barriers.

Harmonizing Molecular Genetic Data: ClinGen and Beyond
Ana Morales, MS, LCGC

Ana Morales is a member of the ClinGen working group and will discuss how next generation sequencing has caused a virtual explosion of clinical molecular genetic sequencing data for heritable disease. ClinGen, a $28M National Human Genome Research Institute effort now underway, aims to compile disease-specific data from all research and clinical sequencing groups in North America, Europe and beyond, that will be annotated and interpreted for the strength of gene-disease relationships and the degree of variant pathogenicity. This will all be placed into a newly formatted knowledgebase, coupled with machine learning algorithms, and migrated into a publically available resource.

Genetic and Genomic Data for the Electronic Health Record (EHR)
Simon Lin, MD, CSDP

Dr. Lin will present ways in which the Electronic Health Record (EHR) offers remarkable opportunity to serve as a platform for genomic medicine. However, to become actionable for clinical practice, genetic and genomic data need to be fully integrated with accurate phenotype data into the EHR. Ideally such data will be accessible and timely, and be provided with decision support. Despite significant advances, numerous challenges remain.

Exploring the Ethics of Big Genetics and Genomics Data and Biological Samples
Amanda Toland, PhD

Dr. Toland will discuss the ethical issues involved with large genomic datasets, including ongoing initiatives such as the UK10K project, Exome Aggregation Consortium, and Haplotype Reference Consortium. These consortia currently release data to the scientific community that may include individual-level genotypic and phenotypic information. This year, the NIH expanded its genomic data sharing policy to apply to all large-scale human and non-human genomic data generated from NIH-supported research, regardless of funding level or mechanism. The NIH Genomic Data Sharing (GDS) Policy will be effective in January 2015. This talk will address questions such as, when collecting data and samples and designing systems to store and share them, when are more (or fewer) ethical protections necessary? Ethical issues including consent, re-contact, risk of re-identification, and future research uses and distribution and their guiding principles will be presented.

Keynote Lecture I: "Genomic Medicine: Making it Happen!"
Teri Manolio MD, PhD, Director, Division of Genomic Medicine, National Human Genome Research Institute

Dr Manolio will present the rationale for the past, present and future programmatic directions of the Division of Genomic Medicine at the NHGRI, which has sponsored and manages major NHGRI research programs. These include the Cancer Genome Atlas (TCGA), Clinical Genome Resource (ClinGen), Clinical Sequencing Exploratory Research (CSER), the Electronic Medical Records and Genomics (eMERGE) network and eMERGE PGx, and several others.

Keynote Lecture II: "Beyond the Exome Sequencing Project and Thousand Genomes: New Insights from Very Large Datasets"
Goncalo Abecasis, D. Phil., Chair, Department of Biostatistics, University of Michigan School of Public Health

Goncalo Abecasis, D.Phil. is the Felix Moore Collegiate Professor of Biostatistics at the University of Michigan School of Public Health. He obtained his D. Phil. in Human Genetics from the University of Oxford in 2001 and joined the University of Michigan that year. His research develops and applies computational and statistical tools to further understanding of complex human diseases including cardiovascular disease, lipid disorders, macular degeneration and diabetes. He has been multiply funded by the NHGRI, HNLBI, NEI and NIDDK. Software and algorithms developed by Dr. Abecasis are used in human genetic studies around the world. He has helped organize and analyze the 1000 Genomes Project and other large international datasets. He has been named twice by Thomson Reuters (2010, 2012) as one of the world's 10 hottest researchers, based on the number of citations to his work.

The Ohio State University Division of Human Genetics Data Management Platform
Dan Kinnamon, PhD

Dr. Kinnamon is an applied statistician with formal training in both statistics and human genetics as well as expertise in data management, software development, and high- performance computing. He completed his master of science in statistics at Stanford University, worked as an applied biostatistician at Children’s Hospital Boston and the University of Miami Miller School of Medicine, and then earned his doctorate in human genetics and genomics at the University of Miami. He has been with the Division of Human Genetics at Ohio State since 2013.

Clinical Human Genomics at Big Data Scale: Lessons from the Cancer Genome Atlas at NCH
Julie Gastier-Foster, PhD

Dr. Gastier-Foster will provide her perspective on how to develop large human genetic/genomic datasets from the logistics of developing the needed infrastructure in terms of both leadership/coordination to data production. These lessons will be embedded in a review of the remarkable infrastructure developed at NCH to provide support for The Cancer Genome Atlas study.

Crossing Colleges, Departments and Divisions to Build New Collaborations
Stephen Petrill, PhD

Dr. Petrill is PI of an NIH "hub" grant, a mechanism that links five NIH developmental disability research center grants through the addition of new program of research. He will discuss his local efforts to create the extensive local collaborative framework across OSU and NCH capable of fulfilling the required multi-university leadership role.

Building Cross-Campus Collaboration: The OSU/NCH Center for Clinical and Translational Science (CCTS)
Rebecca Jackson, MD

Dr. Jackson will present the creation of the integrated cross-campus research relationships to bring the CCTS to reality, and what it takes to maintain and improve it.