Bioinformatics Seminar with Ben Busby, PhD, NIH

The University of Louisville Bioinformatics Seminar Series and the Kentucky Biomedical Research Infrastructure Network (KBRIN) Presents:

Investigation of M tuberculosis and Human Genetic Variation in the Rising Era of Individual Genome Sequence

Ben Busby

National Institutes of Health National Center for Biotechnology Information

Tuesday, September 15, 2015

10:00 AM
Clinical and Translational Research Building
Room 123
HSC Campus



The presentation will describe how NCBI has enhanced several of its genomics resources in the last several months and how some of its public databases can be queried for computational biology and clinical questions. We are in the process of indexing the exons of over 1 million samples from over 800,000 individuals housed in the dbGaP database at every position in the human genome. We have also improved access to the underlying genomic data in several ways. Finally for those who are less computationally sophisticated users, we have introduced variation viewer and variation reporter; powerful tools for researchers and clinicians to investigate disease causing variants found in several populations reported in the ClinVar database, and comparable to backgrounds given by 1000 genomes and the beacon mentioned above. Finally, access to genomic datasets and reference genomes across many phyla and conditions will be discussed.

Sponsored by: Kentucky Biomedical Research Infrastructure Network
NIH Grant P20GM103436

The Bioinformatics Seminar Series is part of the weekly Bioinformatics Journal Club that meets every Wednesday at noon in CTR124.