Rapid advances in genome sequencing techniques and throughput are providing scientists with increasingly detailed views of individual genomes, furthering our understanding of genetic variation in a wide array of organisms, of human population history and of the biology of Mendelian disorders and complex traits. Experiments that were until recently restricted to very large genome centers, such as the resequencing of human genomes, can now be carried out by a wide range of investigators. While these technological advances will enable many new discoveries in human and model organism genetics, they also pose formidable computational challenges. RFA-HG-10-018, entitled """"""""Informatics Tools for High-Throughput Sequence Data Analysis"""""""", is intended to fund further development of existing software to ensure that any biological or biomedical research laboratory can benefit from advances in sequencing technologies. We have developed specialized, state-of-the-art tools for the processing and analysis of next generation sequence data. Our tools encompass many key steps in sequence data analysis, ranging from quality control, to read mapping, to the identification, genotyping and annotation of many classes of sequence variation, to downstream association analyses that seek to connect identified variants with organismal phenotypes. These tools have been used to support analysis of several large, challenging datasets including not only data from the 1000 Genomes Project but also >1000 whole genomes and >2500 exomes sequenced in medical sequencing projects. Here, we propose to develop these tools into easy-to-use, portable, well-documented packages and complete pipelines that facilitate biomedical research in a wide variety of settings. A key component of the proposal is the deployment of these tools in the Galaxy cloud, where they will be accessible to investigators without direct access to a local high-throughput computing and data storage facility.

Public Health Relevance

We are developing computer software to discover and interpret genetic differences between individual human genomes from DNA sequencing data. We are starting with existing computer programs and turning them into stable software packages that can be readily used by any biological laboratory. These methods will enhance the study of human genetic variability and the understanding of heritable human diseases.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Research Project--Cooperative Agreements (U01)
Project #
5U01HG006513-03
Application #
8602845
Study Section
Special Emphasis Panel (ZHG1-HGR-M (O3))
Program Officer
Sofia, Heidi J
Project Start
2012-02-01
Project End
2015-12-31
Budget Start
2014-01-01
Budget End
2014-12-31
Support Year
3
Fiscal Year
2014
Total Cost
$865,480
Indirect Cost
$150,996
Name
Boston College
Department
Biology
Type
Schools of Arts and Sciences
DUNS #
045896339
City
Chestnut Hill
State
MA
Country
United States
Zip Code
02467
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(2015) Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nat Genet 47:1294-303

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