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BIOE Seminar Series: Terry Braun
Friday, March 10, 2017
9:00 a.m.-10:00 a.m.
Pepco Room (1105), Jeong H. Kim Engineering Building
For More Information:
Dr. Silvina Matysiak
matysiak@umd.edu

Terry Braun
Associate Professor
Department of Biomedical Engineering
Ophthalmology and Visual Sciences
Researcher, Center for Bioinformatics and Computational Biology
Director, Coordinated Laboratory for Computational Genomics
University of Iowa 

*BIG TEN EXCHANGE SEMINAR* 

Using Phenotypes to Narrow the Search for Disease-causing Variants: Tools to Support Clinical Genetic Testing for Hearing Loss and Other Inherited Diseases

Despite increasing sequencing depth and decreasing costs, the use of whole-exome and genome sequencing to identify disease-causing variants requires the use of multiple approaches to narrow the list of plausible variants/genes.  These include: the use of databases of known polymorphisms, variants directly observed in other samples, sequence data from grandparents, siblings or monozygotic twins; functional annotations, validation of candidate de novo mutations by Sanger sequencing, validation in more cases and control, and the use of phenotypes to reduce the number of plausible genes. This work describes the use of Machine Learning to train classifiers based on phenotypic data to predict genes that contain disease-causing variants for hearing loss. We have also developed software to aggregate variant data from the Exome Variant Server, 1000s Genome Project, and Exome Aggregation Consortium, along with phenotypic data from ClinVar and HGMD, and pathogenicity predictions from existing tools to filter variants based on allele frequencies and assign pathogenicity in the context of clinical genetic testing for hearing loss.  The resulting data is presented at: http://deafnessvariationdatabase.org/   

 

 



 

Using Phenotypes to Narrow the Search for Disease-causing Variants:

Tools to Support Clinical Genetic Testing for Hearing Loss and

Other Inherited Diseases

This Event is For: Public

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