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BioInform s Funding Update: Some Recent NIH Awards in Bioinformatics: Oct 28, 2002

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Development of DictyBase, an Online Informatics Resource

Start date: August 2002. Expires: August 2006. Principal investigator: Rex Chisholm. Institution: Northwestern University. NIH Institute: NIGMS.

Project will develop a model organism database and bioinformatics portal for Dictyostelium, a single-celled eukaryote currently being sequenced by an international consortium including the National Institutes of Health, the European Union, the Sanger Center, and the German National Science Foundation. The resource will be modeled on the SGD yeast database, and use data structures and tools developed by SGD, FlyBase, WormBase, and other model organism databases whenever possible.

 

Bioinformatic Tool for Cancer Protein Analysis

Start date: September 2002. Expires: August 2003. Principal investigator: Keith Dunker. Institution: Molecular Kinetics. NIH Institute: NCI.

Proposal to create a cancer-specific database called Cancer DisProt to track disordered and non-folded regions of cancer-associated proteins. Proprietary bioinformatics software called PONDRs will correlate disorder/order predictions with functions of a representative set of cancer-associated proteins. The Cancer DisProt database will eventually contain hundreds of cancer-associated proteins with experimentally determined regions of disorder correlated with functions.

 

Proteins to population: A Metacluster for Bioinformatics

Start date: September 2002. Expires: September 2003. Principal investigator: Julio Facelli. Institution: University of Utah. NIH Institution: NCRR.

Project to build a “metacluster” to support several bioinformatics applications under development at the University of Utah. The metacluster will comprise a computational cycle farm, a visualization cluster, a storage/processing unit, and two large storage facilities. The proposed bioinformatics applications include epidemiological studies, investigations of the mechanics of organ-level systems, and atomistic simulations of biomolecular systems.

 

Comparative Approach to Genomics of Complex Traits

Start date: September 2002. Expires: August 2007. Principal investigator: Pascal Goldschmidt. Institution: Duke University. NIH Institute: NHLBI.

A SNP-based study of cardiovascular disease. The project plans to identify genes most likely to make contributions to disease variation, identify the variations within this group of genes, and then conduct association studies to link gene variants with disease phenotype. Researchers will have access to the Duke Cardiovascular Database, a thirty-year effort to follow the clinical course of over 40,000 cardiovascular patients. Methodologies for understanding complex gene expression datasets and statistical approaches to the analysis of the complex genotyping studies will be developed.

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The Scan

Expanded Genetic Testing Uncovers Hereditary Cancer Risk in Significant Subset of Cancer Patients

In Genome Medicine, researchers found pathogenic or likely pathogenic hereditary cancer risk variants in close to 17 percent of the 17,523 patients profiled with expanded germline genetic testing.

Mitochondrial Replacement Therapy Embryos Appear Largely Normal in Single-Cell 'Omics Analyses

Embryos produced with spindle transfer-based mitochondrial replacement had delayed demethylation, but typical aneuploidy and transcriptome features in a PLOS Biology study.

Cancer Patients Report Quality of Life Benefits for Immune Checkpoint Inhibitors

Immune checkpoint inhibitor immunotherapy was linked in JAMA Network Open to enhanced quality of life compared to other treatment types in cancer patients.

Researchers Compare WGS, Exome Sequencing-Based Mendelian Disease Diagnosis

Investigators find a diagnostic edge for whole-genome sequencing, while highlighting the cost advantages and improving diagnostic rate of exome sequencing in EJHG.