NHGRI Extramural Scientific Areas of Emphasis and Program Contacts: Search
Looking for a contact in your research area? Select a category below to find a program officer and funding related to that topic.
Genomics and Disease Risk
Curation and Prioritization for Clinical Variants
Development or improvement of methods, approaches and tools to predict, curate, interpret and/or prioritize clinically relevant genes and variants.
Mendelian, Undiagnosed and Rare Disease Genomics
Development of experimental, diagnostic and analytical strategies to identify and functionally characterize genetic variants or other genomic features that underlie a broad range of rare and undiagnosed diseases and Mendelian phenotypes.
Development of experimental, diagnostic and analytical strategies to identify and functionally characterize genetic variants or other genomic features that underlie a broad range of rare and undiagnosed diseases and Mendelian phenotypes.
Pharmacogenomics
Investigation of the impact of genomic variants on response to drug treatment in diverse populations; establishment and implementation of pharmacogenomic-based drug dosing guidelines; and production of evidence-based resources for clinical applications of pharmacogenomics.
Investigation of the impact of genomic variants on response to drug treatment in diverse populations; establishment and implementation of pharmacogenomic-based drug dosing guidelines; and production of evidence-based resources for clinical applications of pharmacogenomics.
Clinical Sequencing
Genomic Sequencing and Discovery, Including Sequencing Technology and Clinical Workflows
Identification of populations, settings and other factors that will benefit from clinical sequencing, establishment of workflows to reduce turnaround time and/or resources, and use of genome sequencing technologies to identify potential pathogenic or functional variants for clinical use.
Identification of populations, settings and other factors that will benefit from clinical sequencing, establishment of workflows to reduce turnaround time and/or resources, and use of genome sequencing technologies to identify potential pathogenic or functional variants for clinical use.
Perinatal Sequencing and Gene Expression
Use of genome and transcriptome sequencing in the perinatal period of human development to understand the role of gene expression and associated regulatory patterns and to provide insights into disease processes.
Last updated: April 21, 2022