Genome Technology Branch
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.
Position Available
Postdoctoral Fellowship in Bioinformatics and Evolutionary Genomics 
Senior Investigators
Lawrence C. Brody, Ph.D.
Chief & Senior Investigator, Genome Technology Branch
Head, Molecular Pathogenesis Section
Shawn Burgess, Ph.D.
Investigator, Genome Technology Branch
Head, Developmental Genomics Section
Francis S. Collins, M.D., Ph.D.
Senior Investigator, Genome Technology Branch
Director, National Institutes of Health
Investigators
Laura L. Elnitski, Ph.D.
Investigator, Genome Technology Branch
Head, Genomic Functional Analysis Section
Associate Investigators
Andy Baxevanis, Ph.D.
Deputy Scientific Director, Division of Intramural Research, NHGRI
Associate Investigator, Genome Technology Branch
Head, Computational Genomics Unit
Director, Bioinformatics and Scientific Programming Core
Robert W. Blakesley, Ph.D.
Associate Investigator, Genome Technology Branch
Director, Sequencing Group, NIH Intramural Sequencing Center (NISC)
Gerard Bouffard, Ph.D.
Associate Investigator, Genome Technology Branch
Director, Bioinformatics Group, NIH Intramural Sequencing Center (NISC)
James C. Mullikin, Ph.D.
Associate Investigator, Genome Technology Branch
Head, Comparative Genomics Unit
Director, NIH Intramural Sequencing Center
Tyra Wolfsberg, Ph.D.
Associate Investigator, Genome Technology Branch
Associate Director, Bioinformatics and Scientific Programming Core
Adjunct Investigators
Christopher P. Austin, M.D.
Adjunct Investigator, Genome Technology Branch
Director, NIH Center for Translational Therapeutics
Senior Advisor to the NHGRI Director for Translational Research, Office of the Director
Tools
SKIPPY
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
Bam2mpg calls genotypes from sequence reads of haploid or diploid DNA aligned to a closely-related reference sequence.
VarSifter
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
Last Updated: January 18, 2012
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