Re-assessing the Human Gene Catalog and the Human Genome: How Much Are We Missing?

NCI’s Center for Cancer Research (CCR), through the Bioinformatics Training and Education Program (BTEP) Distinguished Speaker Series, will present “Re-assessing the Human Gene Catalog and the Human Genome: How Much Are We Missing?”

How many genes do we have? The Human Genome Project was launched with the promise of revealing all of our genes, the “code” that would help explain our biology. The publication of the human genome in 2001 provided only a very rough answer to this question. For more than a decade following, 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, Steven Salzberg, Ph.D., Director of the Center for Computational Biology at Johns Hopkins University, will review progress as well as 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 team* have discovered, 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’s talk describes joint work with Mihaela Pertea, Rachel Sherman, Alaina Shumate, Ales Varabyou, and Geo Pertea.

Videocast is open to the public; NIH employees are encouraged to register.