NHGRI Extramural Scientific Areas of Emphasis and Program Contacts: Search
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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.
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.
Transcriptomics, Epitranscriptomics and RNA Processing
Large-scale analysis or profiling of RNAs, including RNA functional elements, post-transcriptional RNA processing and RNA modifications.
Last updated: April 21, 2022