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Bioinformatics Training and Education Program: Re-assessing the Human Gene Catalog and the Human Genome: How much are we missing? (NIH Only)

Air date: Thursday, October 24, 2019, 1:00:00 PM
Time displayed is Eastern Time, Washington DC Local
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Description: Bioinformatics Training & Education Program Seminar

The Human Genome Project was launched with the promise of revealing all of our genes; the “code” that would help explain human biology. How many genes do we have? The publication of the human genome in 2001 provided only a very rough answer to this question. For more than a decade following publication, the number of protein-coding genes steadily shrank, but the introduction of RNA sequencing revealed a vast new world of splice variants and RNA genes.

In this talk, Dr. Salzberg will review where we’ve been and where we are today, and will describe the use of an unprecedentedly large RNA sequencing resource to create a comprehensive new human gene catalog, containing thousands of novel genes and gene variants. He will then turn to the genome itself, and discuss how he and his colleagues found, through the assembly of 910 individuals of African descent, that the human reference genome is missing nearly 300 million bases that are present in some members of the population.

Dr. Salzberg will describe his joint work with Mihaela Pertea, Rachel Sherman, Alaina Shumate, Ales Varabyou, and Geo Pertea.

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Author: Steven L. Salzberg, Ph.D., Bloomberg Distinguished Professor of Biomedical Engineering, Computer Science, and Biostatistics, Director, Center for Computational Biology, Johns Hopkins University
Runtime: 2 hours