Research Branches

Genome Technology Branch

Fluorescent DNA sequencing results - Liquid-handling robot - Three-dimensional protein source

Investigators in the Genome Technology Branch (GTB) study the structure and function of genomes in disease and normal states. Over the years, GTB researchers have developed world-class expertise in a wide range of genomic techniques, including the mapping and sequencing of mammalian chromosomes, gene isolation, systematic mutagenesis, developmental genomics, and computational analysis of DNA and protein sequences. This work has been applied to the development, testing, and implementation of a range of innovative technologies for performing genome sequencing, screening, and analysis. GTB investigators are actively studying the genetic causes of rare disorders, such as hereditary deafness, progeria, and peripheral neuropathies. They also are studying genetic contributions to more common conditions, such as type 2 diabetes and neural tube defects, and are investigating how particular genes may influence normal health and even longevity.

GTB houses core units and centers that provide genomic services to NHGRI and the broader National Institutes of Health (NIH) community. Many intramural scientists at other NIH Institutes have tapped into GTB's expertise in large-scale DNA sequencing and its applications, and others have benefited from GTB's developments in computational genomics. GTB investigators are involved in a number of joint ventures with other NIH Institutes to develop resources for the genomic research community, including numerous genome analysis tools and resources that are freely available on the NHGRI website.

Senior Investigators

Lawrence C. Brody, Ph.D.
Chief, Genome Technology Branch
Head, Molecular Pathogenesis Section
Director, Division of Genomics and Society

Shawn Burgess, Ph.D.
Head, Developmental Genomics Section

Francis S. Collins, M.D., Ph.D.
Director, National Institutes of Health

Laura L. Elnitski, Ph.D.
Head, Genomic Functional Analysis Section

Associate Investigators

Andy Baxevanis, Ph.D.
Deputy Scientific Director, Division of Intramural Research, NHGRI
Head, Computational Genomics Unit
Director, Bioinformatics and Scientific Programming Core

Robert W. Blakesley, Ph.D.
Director, Sequencing Group, NIH Intramural Sequencing Center (NISC)

Gerard Bouffard, Ph.D.
Director, Bioinformatics Group, NIH Intramural Sequencing Center (NISC)

James C. Mullikin, Ph.D.
Head, Comparative Genomics Unit
Director, NIH Intramural Sequencing Center

Tyra Wolfsberg, Ph.D.
Associate Director, Bioinformatics and Scientific Programming Core

Adjunct Investigators

Kenneth Fishbeck, M.D.
NIH Distinguished Investigator
Neurogenetics Branch
National Institute of Neurological Disorders and Stroke


Skippy is a Web-based tool that allows users to input a set of exonic variants to score them for a number of features (such as changes in splicing regulatory elements) that have been shown to be predictive of known genome variations that cause exon skipping or activation of ectopic splice sites.

Bam2mpg calls genotypes from sequence reads of haploid or diploid DNA aligned to a closely-related reference sequence.

VarSifter is a graphical Java program designed to display, sort, filter, and generally sift variation data from massively parallel sequencing experiments.

Research Project Web Sites

Breast Cancer Information Core

Human Chromosome 7 Mapping and Sequencing


Histone Sequence Database

Homeodomain Resource

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Last Updated: November 22, 2013