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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.

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.

Argenia Doss, Ph.D.
Email: argenia.doss@nih.gov

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.

Computational Genomics and Data Science Methods Development

Computational Methods for Clinical Genomics 

Development and implementation of genomic-based clinical informatics resources and tools that harmonize scalable, sharable and computable inferences of genomic knowledge with clinical practice guidelines. Includes frameworks and collaborative tools that allow researchers to share, analyze and secure genomic data and patient information.

Computational Methods for Functional Genomics

Development of novel methods, software and tools to analyze gene regulation, gene expression, epigenetic modifications and methylation data. Includes methods to integrate and interpret across multiple data types.

Computational Methods for Genomic Sequencing Data

Development of novel methods, software and tools to process, align, format and visualize genomic sequence reads; perform genome assembly; and extract sequence features. Includes graph-based and other novel approaches for pangenome analysis. Also includes general genomic analysis tools.

Development of novel methods, software and tools to process, align, format and visualize genomic sequence reads; perform genome assembly; and extract sequence features. Includes graph-based and other novel approaches for pangenome analysis. Also includes general genomic analysis tools.

Computational Methods for Variation and Association Analysis

Development of novel methods, software and tools for identifying and interpreting genetic variation, elucidating the genetic architecture of human traits and disease, and analyzing population and evolutionary level genomic data.

Development of novel methods, software and tools for identifying and interpreting genetic variation, elucidating the genetic architecture of human traits and disease, and analyzing population and evolutionary level genomic data.

Genomic Data Resources

Genomic and Phenotype Measures and Standards

Development of tools and standards to facilitate sharing and analysis of large-scale genomics data, phenotype data and associated metadata. Includes approaches to harmonize phenotypic information for use in genomic analysis, such as incorporating family history information, electronic phenotyping and ontology development.

Development of tools and standards to facilitate sharing and analysis of large-scale genomics data, phenotype data and associated metadata. Includes approaches to harmonize phenotypic information for use in genomic analysis, such as incorporating family history information, electronic phenotyping and ontology development.

Genomic Community Resources 

Development and maintenance of resources that collect, curate, integrate and distribute comprehensive sets of genomic information from humans or biomedically relevant species. Includes software environments to store, share, analyze and visualize genomics data.

Ethical, Legal and Social Implications

Genomic Healthcare

Approaches to address Ethical, Legal and Social Implications (ELSI) issues that arise for individuals, communities and care providers as genomics is brought to a variety of healthcare settings and populations.

Genomic Research Design and Implementation

Development of approaches to address the ethical, legal, social and policy issues that arise in connection with designing and conducting genetic and genomic research.

Genomics and Sociocultural Structures and Values

Investigation of foundational concepts and values that underlie and shape how individuals, families, communities and other social and cultural groups understand and use genomic information and technologies.

Genomics at the Institutional and System Level

Exploration of the interplay, involvement and influence of organizations, institutions, governments, systems or other organized stakeholders within the field of genomics.

Genome Structure

Detection of Structurally Complex Variation

Improvement and application of approaches for the detection, haplotype phasing and cataloging of complex forms of genomic variation, including structural variants, tandem repeats and mobile element insertions.

Genome Assemblies, Alignment and Reference Genomes

Development and application of methods and tools for genome alignment and assembly. Includes haplotype phasing, de novo assemblies, pangenomes and approaches that incorporate long-read sequencing.

Development and application of methods and tools for genome alignment and assembly. Includes haplotype phasing, de novo assemblies, pangenomes and approaches that incorporate long-read sequencing.

Functional Genomics

Epigenomics, Chromatin and Nuclear Architecture

Application of high-throughput genomic assays to investigate DNA methylation, histone modification and nuclear architecture, and their roles in gene regulation and genome function. Includes approaches to identify and characterize regulatory elements.

Application of high-throughput genomic assays to investigate DNA methylation, histone modification and nuclear architecture, and their roles in gene regulation and genome function. Includes approaches to identify and characterize regulatory elements.

Gene Regulatory Networks

Investigation of regulatory networks and pathways, including testing how variants, genes and/or proteins interact in the context of genome function and human disease.

Investigation of regulatory networks and pathways, including testing how variants, genes and/or proteins interact in the context of genome function and human disease.

Tina Gatlin, Ph.D.
Email: gatlincl@mail.nih.gov

Transcriptomics, Epitranscriptomics and RNA Processing

Large-scale analysis or profiling of RNAs, including RNA functional elements, post-transcriptional RNA processing and RNA modifications.

Large-scale analysis or profiling of RNAs, including RNA functional elements, post-transcriptional RNA processing and RNA modifications.

Genomic Medicine Clinical Implementation and Evaluation

Clinical Evidence Base for, and Demonstrating Effectiveness of, Genomic Medicine

Investigation of the clinical impact of genomic medicine and the conditions under which patients are most likely to derive the greatest benefit.

Health Disparities, Health Equity and Access to Genomic Medicine

Improvement of the quantity or quality of genomic data in underrepresented populations, particularly as related to population differences in disease risk or disparities in healthcare, and identification of barriers to accessing genomic medicine in underserved areas and populations.

Improvement of the quantity or quality of genomic data in underrepresented populations, particularly as related to population differences in disease risk or disparities in healthcare, and identification of barriers to accessing genomic medicine in underserved areas and populations.

Return of Results and Outcome Research

Improvement of how information is shared with research volunteers and their physicians to inform treatment and healthcare management, and the impact of that information on healthcare practices, costs, equity and efficiencies and on patients’ quality of life.

Improvement of how information is shared with research volunteers and their physicians to inform treatment and healthcare management, and the impact of that information on healthcare practices, costs, equity and efficiencies and on patients’ quality of life.

Electronic Health Records and Clinical Decision Support

Electronic Medical Records / Electronic Health Records Related Genomic Studies (GWAS, PheWAS)

Integration of genomic data with electronic medical record systems for large-scale, high-throughput genetic research to support genomic medicine implementation. Includes integrating genomic, clinical and family history data into a genomic informed risk assessment and incorporating genomic information into electronic medical records and clinical decision support systems.

Integration of genomic data with electronic medical record systems for large-scale, high-throughput genetic research to support genomic medicine implementation. Includes integrating genomic, clinical and family history data into a genomic informed risk assessment and incorporating genomic information into electronic medical records and clinical decision support systems.

Genomic Technology Development

High-Throughput Genomic Technologies

Development of methods or technologies for large-scale analysis of genomic features such as gene expression, sequence variation, regulatory elements or genomic interactions.

Development of methods or technologies for large-scale analysis of genomic features such as gene expression, sequence variation, regulatory elements or genomic interactions.

Development of methods or technologies for large-scale analysis of genomic features such as gene expression, sequence variation, regulatory elements or genomic interactions.

Nucleic Acid Isolation, Sequencing and Synthesis

Development of methods to isolate, quantify or sequence DNA and RNA, including native sequencing of modified bases. Includes the development of methods to make and characterize synthetic DNA and constructs.

Spatial Genomics

Development of tools and technologies to help investigate genome structure and function within the native tissue environment.

Development of tools and technologies to help investigate genome structure and function within the native tissue environment.

Population and Comparative Genomics

Comparative Genomics

Use of comparative genomics and evolutionary biology approaches to associate genomic regions or elements with phenotypic traits, elucidate their function and understand their role in disease. Includes improvements in the way genomes, transcriptomes and epigenomes of model and non-model organisms are annotated. 

Population Genetics

Improvement of the methods, approaches and tools to analyze population genomic phenomena in relation to human health and disease, including selection, recombination patterns, molecular evolution, haplotype phasing and imputation.

Genomics of Disease

Functional Characterization of Variants

Development of generalizable approaches to study how genetic variants lead to differences in molecular and cellular function and how such functional differences affect human health and disease processes.

Development of generalizable approaches to study how genetic variants lead to differences in molecular and cellular function and how such functional differences affect human health and disease processes.

Genomic Epidemiology and Statistical Genomics

Improvement of methods, approaches and tools for genome-wide association studies or polygenic risk assessments of complex traits. Includes approaches that address confounders or effect modifiers, and approaches to analyze ancestrally diverse populations.

Small Business

Computational Genomics

Supporting small business application including Phase 1 and Phase 2 SBIR and STTRs that address commercial opportunities in computational genomics.

Genomic Medicine

Supporting small business application including Phase 1 and Phase 2 SBIR and STTRs that address commercial opportunities in genomic medicine.

Genomic Science

Supporting small business application including Phase 1 and Phase 2 SBIR and STTRs that address commercial opportunities in genomic sciences.

Training

Computational Genomics Training

Support for training with a focus on computational genomics and genomic data science.

Ethical, Legal and Social Implications (ELSI)

Support for training with a focus on developing multi-disciplinary conceptual and methodological skills necessary to pursue independent careers as ELSI researchers.

Genome Science

Support for training with a focus on basic genomics research, genomic technology development functional genomics and large-scale genome sequencing.

Genomic Medicine Training

Support for training with a focus on innovation and understanding of when, where and how to best implement the use of genomic information and technologies in clinical care.

Research Training and Workforce Development

Support for both institutional and individual training to prepare a diverse and talented genomics workforce.

Last updated: April 21, 2022