
Purpose
The Epidemiology and Genomics Research Program hosts a webinar series entitled "Sequencing Strategies for Population and Cancer Epidemiology Studies (SeqSPACE)." The purpose of this forum is to provide an opportunity for our grantees and other interested individuals to share lessons learned and practical information regarding the application of next generation sequencing to cancer epidemiology studies.
By sharing lessons learned across funded projects, EGRP aims to facilitate higher quality research and more interpretable genetic research studies for the future. In addition, the webinar participants may work together to establish best practices for epidemiology research.
Any interested individual is invited to participate, however pre-registration is required. Each presentation will be about 30 minutes in length and allow for 30 minutes of discussion. Instructions for connecting to the webinars will be sent via e-mail to individuals who register for the webinars.
Background
The past decade has seen a transformation in genetic epidemiology of complex diseases, from linkage to association studies, which progressed from investigating single variants in candidate genes, to genome-wide approaches, including genome-wide association studies (GWAS). GWAS have successfully identified hundreds of common genetic variants associated with cancer and other complex diseases, however with the advent of next-generation parallel DNA sequencing technologies, there is a renewed interest in examining the role of rare variants and other forms of genetic variation in complex disease etiology. While sequencing of thousands of cancer-normal genomes is estimated to be completed worldwide by the end of 2014, germline sequencing in epidemiologic studies of cancer risk are relatively nascent.
Sequencing technology is more technically difficult than genotyping using GWAS arrays and requires unique considerations related to the study design and techniques used for sequencing and analysis. Quality control standards are needed for sequencing across samples, platforms, and institutions. GWAS arrays had high reproducibility and concordance, but this is not yet the case for sequencing data. In addition, combining data from different studies is more challenging in sequencing studies than GWAS. Poorly designed studies will result in uninterpretable or even biased results.
Upcoming Topics and Speakers
There are currently no upcoming webinars scheduled.
Note: Additional speakers and topics may be added in the future.
Past Topics and Speakers
The list below includes topics, speakers, and recordings from the past two years plus selected webinars.
EGRP is dedicated to ensuring that our recorded webinars comply with Section 508 of the Rehabilitation Act (as amended) for individuals who are hearing and sight impaired. If you encounter any recorded webinar that does not meet your needs, please feel free to reach out to NCIEpiCommunications@mail.nih.gov.
2024
SeqSPACE 10 Year Anniversary: Past, Present, and Future

Melissa B. Davis, PhD
Director, Institute of Translational Genomic Medicine
Georgia Research Alliance Distinguished Investigator
Breast Cancer Research Foundation Investigator
Executive Director, MSM Diversity Center for Genomic Research - NHGRI
Team Lead/PI, SAMBAI, NCI/CRUK Cancer Grand Challenges

Kimberly F. Doheny, PhD
Professor of Genetic Medicine
Johns Hopkins University School of Medicine

Alexander Gusev, PhD
Associate Professor of Medicine
Harvard Medical School and Dana-Farber Cancer Institute
Moderators:

Tabitha Harrison, MPH
Research Scientist
University of Washington School of Public Health

Fredrick Schumacher, PhD, MPH
Associate Professor, Department of Population and Quantitative Health Sciences, School of Medicine
Case Western Reserve University
The Sequencing Strategies for Population and Cancer Epidemiology Studies (SeqSPACE) webinar series began 10 years ago (in November 2014). The series was designed to share lessons learned about the application of next generation sequencing to cancer epidemiology research. In this special webinar, organized to mark this milestone, Kimberly Doheny, PhD; Alexander Gusev, PhD; and Melissa Davis, PhD reflected on lessons learned, opportunities and challenges, and their vision for the future of sequencing in cancer epidemiology. The webinar was moderated by Fredrick Schumacher, PhD, MPH and Tabitha Harrison, MPH, who have been moderating this series since its inception.
Proteogenomic Insights into Non-small Cell Lung Cancer Biology and Epidemiology

Michael Gillette, MD, PhD
Senior Group Leader, Proteomics and Biomarker Discovery
Broad Institute of MIT and Harvard
Dr. Michael Gillette is a senior group leader in proteomics and biomarker discovery at the Broad Institute of MIT and Harvard. He is also a pulmonary and critical care medicine attending and associate physician at the Massachusetts General Hospital, an assistant professor of medicine at Harvard Medical School, and an associate editor for Molecular & Cellular Proteomics. Dr. Gillette’s interests include clinical proteomics and biomarker development. With other Broad colleagues, he was involved in the development and implementation of all aspects of a coherent biomarker discovery-to-verification pipeline. With Proteomics Platform director Steve Carr, he led Broad Institute efforts in breast and ovarian cancer proteomic biomarker discovery and in molecular characterization of infectious diseases of high international health import, including pediatric febrile illness and tuberculosis. In this webinar, Dr. Gillette presented on proteogenomic insights into non-small cell lung cancer biology and epidemiology.
Opportunities and Challenges for the Use of Common Controls in Sequencing Studies

Audrey E. Hendricks, PhD
Associate Professor, Biomedical Informatics
University of Colorado Anschutz Medical Campus
Dr. Audrey E. Hendricks is an associate professor of biomedical informatics at the University of Colorado Anschutz Medical Campus. Her team at the Hendrick’s Lab serves as the lynch pin between biomedical research and statistical and machine learning method development. They develop and apply methods to improve the utility and equity of large, publicly available genetic data resources, identify the biological mechanisms of healthy diets, and elucidate the genomic underpinnings of conditions and traits. In this webinar, Dr. Hendricks presented on the opportunities and challenges of using common controls in sequencing studies as well as methods and applications in this area.
Leveraging Population-Based Registries for Genomic Studies of Pediatric Cancer

Philip Lupo, PhD
Professor, Pediatrics and Hematology-Oncology
Baylor College of Medicine
Dr. Philip Lupo is a professor of pediatrics and hematology-oncology at Baylor College of Medicine. His lab focuses on the molecular epidemiology of pediatric disease and conditions. Areas of interest include understanding the risk of cancer among children with structural birth defects; determining inherited genes underlying susceptibility to rhabdomyosarcoma; phenomic and genomic studies of structural birth defects; and addressing disparities in acute lymphoblastic leukemia susceptibility and outcomes. In this webinar, Dr. Lupo presented on leveraging population-based registries for genomic studies of pediatric cancer.
2023
Human Pangenome Reference

Ting Wang, PhD
Sanford C. and Karen P. Loewentheil Distinguished Professor of Medicine
McDonnell Genome Institute, Washington University School of Medicine in St. Louis

Karen Miga, PhD
Assistant Professor, Biomolecular Engineering Department
Associate Director, UCSC Genomics Institute
University of California, Santa Cruz
Dr. Ting Wang is a Sanford C. and Karen P. Loewentheil Distinguished Professor of Medicine at the McDonnell Genome Institute, Washington University School of Medicine in St. Louis. Dr. Wang’s lab investigates epigenetic determinants of cell fates in normal development and regeneration, in cancer, and in evolution, by integrating cutting-edge experimental and computational technologies. His lab developed widely used DNA methylomics technologies, algorithms to identify regulatory motifs and modules, and analytical and visualization tools to integrate large genomic and epigenomic data.
Dr. Karen Miga is an assistant professor in the Biomolecular Engineering Department at the University of California, Santa Cruz (UCSC). She is also the associate director of the UCSC Genomics Institute. In addition, she co-leads the Telomere-to-Telomere (T2T) Consortium and is the project director of the Human Pangenome Reference Consortium (HPRC) Production Center at UCSC. Her lab aims to uncover a new source of genetic and epigenetic variation in the human population, which is useful to investigate novel associations between genotype and phenotype of inherited traits and disease.
In this webinar, Drs. Wang and Miga presented on the human pangenome reference. They discussed resources that describe the tools and methods used in the pangenome and T2T, including the consortium website, the UCSC Genome Browser
, and the WashU Epigenome Browser
.
Prioritizing Disease-Critical Variants, Genes, and Cell Types Using Genetic and Genomic Data

Kushal Dey, PhD
Assistant Member and Josie Robertson Investigator, Department of Computational and Systems Biology
Assistant Professor, Gerstner Sloan Kettering Graduate School of Biomedical Sciences
Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center
Dr. Kushal Dey is an assistant member and Josie Robertson investigator in the Department of Computational and Systems Biology at the Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center. He is also an assistant professor at the Gerstner Sloan Kettering Graduate School of Biomedical Sciences. In this webinar, Dr. Dey discussed his work at the Kushal Dey Lab, which builds statistical and machine learning models that integrate genetic and genomic data to prioritize variants, genes, and cell types, and to decode the causal functional architecture underlying heritable complex diseases — including immune-related diseases, like Alzheimer’s and inflammatory bowel disease, and heritable cancers, like breast cancer.
Incorporating Common and Rare Genetic Variants into Polygenic Risk Scores of Prostate Cancer

Burcu F. Darst, PhD
Assistant Professor, Public Health Sciences Division
Fred Hutchinson Cancer Center
Dr. Burcu F. Darst is an assistant professor in the Public Health Sciences Division at the Fred Hutchinson Cancer Center. Her research is focused on identifying and understanding genetic and multi-omic risk factors of prostate cancer in diverse populations. In this webinar, Dr. Darst presented on her effort to improve the utility of polygenic risk scores and rare genetic variants for the prediction of prostate cancer across patient populations.
UCSC Genome Browser and BRCA Exchange: Data Resources for Clinical Variant Interpretation

Maximilian Haeussler, PhD
Research Scientist
UCSC Genome Browser Co-PI
University of California, Santa Cruz Genomics Institute

Melissa Cline, PhD
Program Manager, BRCA Exchange
University of California, Santa Cruz Genomics Institute
Dr. Maximilian Haeussler is the co-PI for the UCSC Genome Browser, an interactive website offering access to genome sequence data from a variety of vertebrate and invertebrate species and major model organisms, integrated with a large collection of aligned annotations. Dr. Melissa Cline is program manager of the UCSC BRCA Exchange
, a project which aims to advance the understanding of the genetic basis of breast, ovarian, pancreatic, and other cancers by pooling data on BRCA1/2 genetic variants and corresponding clinical data from around the world. In this webinar, Drs. Haeussler and Cline discussed these programs and data resources for clinical variant interpretation.
Count Me In: Partnering with Patients to Define the Landscape of Rare, Aggressive Sarcomas
Joint webinar with the Cancer Moonshot Seminar Series

Katherine Janeway, MD
Pediatric Hematologist-Oncologist and Investigator
Dana-Farber Cancer Institute
Dr. Katherine Janeway is a pediatric hematologist-oncologist and investigator at the Dana-Farber Cancer Institute with a research focus of pediatric sarcomas. With her presentation "Count Me In: Partnering with Patients to Define the Landscape of Rare, Aggressive Sarcomas," Dr. Janeway addressed the Cancer Moonshot Research initiative to Establish a Network for Direct Patient Engagement.
Selected Webinars
Early Detection of Cancer: Challenges and Opportunities

Nickolas Papadopoulos, PhD
Professor
Oncology and Pathology
Director of Translational Genetics
Ludwig Center for Cancer Genetics & Therapeutics
Sidney Kimmel Comprehensive Cancer Center
Dr. Nickolas Papadopoulos is a professor of oncology and pathology at the Johns Hopkins University School of Medicine. His research focuses on cancer biology, genetics, and diagnostics. Dr. Papadopoulos is internationally known as a co‐discoverer of the genetic basis of the predisposition to hereditary nonpolyposis colon cancer (HNPCC), one of the most common hereditary forms of cancer. In this webinar, Dr. Papadopoulos presented on liquid biopsies and challenges and opportunities in early detection of cancer.
Next Generation Sequencing and Tumor Initiation and Progression

Christina Curtis, PhD, MSc
Associate Professor of Medicine and Genetics, Stanford University School of Medicine
Co-Director, Molecular Tumor Board, Stanford Cancer Institute
Dr. Christina Curtis is an Associate Professor in the Departments of Medicine (Oncology) and Genetics in the School of Medicine at Stanford University where she leads the Cancer Computational and Systems Biology Group and is Co-Director of the Molecular Tumor Board at the Stanford Cancer Institute. The Curtis laboratory is focused on the development and application of innovative experimental, computational, and analytical approaches to improve the diagnosis, treatment, and early detection of cancer. Dr. Curtis presented on next generation sequencing and tumor initiation and progression.
Polygenic Risk Scores: Development, Validation and Applications

Nilanjan Chatterjee, PhD
Bloomberg Distinguished Professor
Professor, Biostatistics, Johns Hopkins School of Public Health
Professor, School of Medicine, Johns Hopkins University
Professor, Epidemiology, Johns Hopkins School of Public Health
Dr. Chatterjee leads a broad research program in quantitative research that cuts across multiple areas of modern population-based biomedical science including statistical genetics/genomics, precision medicine and big data. The scientific goals of his studies include discovery of new biomarkers, understanding disease mechanisms, characterizing disease risk and developing risk-stratified approaches to disease prevention. In this webinar, Dr. Chatterjee presented research on polygenic risk scores.
SeqSPACE Co-Chairs
- Tabitha Harrison, MPH
, University of Washington
- Fredrick Schumacher, PhD, MPH
, Case Western Reserve University
SeqSPACE Planning Committee
- Elizabeth Gillanders, PhD, Branch Chief, Genomic Epidemiology Branch
- Leah Mechanic, PhD, MPH, Program Director, Genomic Epidemiology Branch
- Melissa Rotunno, PhD, Program Director, Genomic Epidemiology Branch
- Katie Kortokrax, M.Ed., Public Affairs Specialist, Office of the Associate Director