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Re-assessing the Human Gene Catalog and the Human Genome: How much are we missing?
Steven L. Salzberg, Ph.D.
Bloomberg Distinguished Professor of Biomedical Engineering, Computer Science, and Biostatistics
Director, Center for Computational Biology, Johns Hopkins University
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, I will review where we’ve been and where we are today, and I will describe our use of an unprecedentedly large RNA sequencing resource to create a comprehensive new human gene catalog, containing thousands of novel genes and gene variants. I’ll then turn to the genome itself, and discuss how we’ve 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.
This talk describes joint work with Mihaela Pertea, Rachel Sherman, Alaina Shumate, Ales Varabyou, and Geo Pertea.
This talk will be video cast live and archived at https://videocast.nih.gov/summary.asp?live=34578