Improving the Backbone of Clinical Genomics : Valerie Schneider, NCBI

Valerie Schneider, Scientist at the National Center for Biotechnology Information (NCBI)


Listen (4:27) Why are you still working on the human reference genome?

Listen (4:34) How is the reference genome used?

Listen (2:35) How are new NGS technologies such as long reads impacting your work?

Listen (6:09) What are graph based genome assemblies?

Listen (4:41) How good are the new genome interpretation companies?

When President Bill Clinton stood with Francis Collins and Craig Venter in 2001 to announce the sequencing of the genome, the genome wasn’t really done.

So is it done now? And if not, when will it be done? What does ‘done’ even mean? That first human genome sequence that represented the work of Venter and Collins improved each year and became what geneticists refer to as the reference genome. In 2009 the Genome Reference Consortium, a group of various institutions, was set up for the purpose of finishing this reference genome. And every few years a new version is published. The latest goes by the sexy name of GRCh38.

Valerie Schneider, a scientist at the National Center for Biotechnology Information (NCBI), is the leader of the team working on the reference genome. In today’s interview, she tells us about the ongoing work to improve the reference genome, and why it’s important to science and medicine.

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