The Cancer Genomics Research Laboratory investigates how genetic variation contributes to cancer susceptibility and disease outcomes. Using cutting-edge genomics and histopathology techniques, our high-throughput laboratory studies various specimen collections, including large prospective and longitudinal cohorts, as well as small family studies.

We are a specialized laboratory within the Biospecimen Research Group. Our goal is to determine genetic susceptibility to cancer and other diseases, inform early detection, and improve treatment for patients worldwide. 

Genome-wide technologies to discover environmental, genetic determinants 

We work with epidemiologists, biostatisticians, and basic research scientists in the National Cancer Institute’s Division of Cancer Epidemiology and Genetics intramural research program, providing the capacity to conduct genome-wide discovery studies and targeted regional approaches to identify the inheritable and acquired genetic determinants of several types of cancer and other public health concerns. Our team provides support for molecular and digital histopathology for somatic research and integrative analysis in subjects of interest.  

Research support: Study planning to data generation, analysis to publication 

Our laboratory supports the Division of Cancer Epidemiology and Genetics in all stages of research, from planning to publication, including experimental design and project management, sample handling, genotyping, and sequencing assay design and execution. We also enable molecular and digital histopathology technologies, develop and implement bioinformatics pipelines, and support downstream research and analytical needs.  

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Expanding sample management capabilities for large consortial studies

Our laboratory receives and processes more than 100,000 biospecimen samples each year from sites all over the world. Using robotic liquid-handling automation instruments, our team processes biospecimens through a quality-control pipeline that stages and qualifies samples for costly downstream applications. Samples come from collaborators worldwide as well as the Division of Cancer Epidemiology and Genetics collection comprising more than 11 million biospecimens. These samples belong to studies focused on research for more than two dozen cancer phenotypes as well as infectious diseases. 

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Data sharing through publications and investigator resources 

The Cancer Genomics Research Laboratory and the Division of Cancer Epidemiology and Genetics have a long and productive history of publishing in high-impact journals and sharing data through public repositories. 

Our capabilities and specializations

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Molecular and digital pathology 

We support the detailed study of human tissues by using advanced handling and staining techniques. Our Molecular and Digital Pathology Laboratory allows the use of formalin-fixed, paraffin-embedded and fresh-frozen tissues for various genomic and proteomic applications. 

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  • Histological staining and pathology review 

  • FFPE tissue management (creation of scrolls, slides, TMAs) 

  • IHC and mIF assay support 

  • Tumor and ROI enrichment via macro and microdissection 

  • Spatial biology applications via GeoMX and 10x Visium 

  • Digital pathology image management and analysis 

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Sample extraction, staging, and project management 

We have high-throughput sample management capabilities for large consortial studies, as well as multiple extraction methods to support viral, microbial, and human genomics studies. We also provide custom temperature-controlled aliquoting services for Division of Cancer Epidemiology and Genetics studies. 

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  • Coordination with government collaborators and principal investigators for research studies 

  • Shipment and receipt of biospecimens worldwide 

  • Nucleic acid extraction and qualitative and quantitative assessment from various biospecimens 

  • High-throughput DNA staging/QC pipeline 

  • Automated creation of aliquots and plating of projects for downstream assays 

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Genotyping and functional characterization 

We assess genetic, epigenetic, and other events using genome-wide and targeted techniques. 

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  • Execution of GWAS using the Illumina Infinium platform, including primary QC, imputation, and initial association analyses 

  • Support for methylation analysis using the Illumina EPIC platform 

  • Relative telomere analysis using qPCR 

  • Functional characterization of genomic variation using multiple techniques 

  • Assessment of clonal hematopoiesis and mosaic events 

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Sequencing support for germline and somatic variation 

Our laboratory supports data generation and analysis via multiple genomic platforms and applications for human, viral (HPV), and microbial biospecimens. The data we generate are minimally analyzed to perform basic quality control and result in the generation of an analysis-ready dataset.    

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  • Targeted, exome, and whole-genome sequencing via Illumina, Ion Torrent, and PacBio platforms 

  • Whole-transcriptome sequencing, miRNA sequencing, targeted expression analysis 

  • Microbial 16S and whole-genome shotgun sequencing 

  • Whole-genome viral (HPV) sequencing and HPV genotyping