#183 Dr. Miga and Dr. Phillippy on the Telomere to Telomere Consortium

Last episode (182) we were joined by Dr. Eric Green, the Director of the National Human Genome Research Institute (NHGRI) at the NIH. And we chatted about the recent completion of the human genome. To continue this conversation, I am joined by the co-founders of the Telomere to Telomere Consortium which lead this project! Dr. Karen Miga is an Assistant Professor in Biomolecular Engineering at The University of California, Santa Cruz. She is also the associate director of the UCSC Genomics Institute. The Miga Lab at UCSC focuses on genomic and epigenetic structure within human centromeres and constitutive heterochromatin, which are now emerging to the forefront of genomics. She received a B.S. in biological sciences from the University of Tennessee Knoxville and then went on to get a masters degree in genetics at Case Western Reserve University. Karen received her Ph.D. in genetics and computational biology from Duke University. She was named as “One to Watch” in the 2020 Nature's 10. Dr. Adam Phillippy is a Senior Investigator and Head of the Genome Informatics Section at the National Human Genome Research Institute (NHGRI). His lab develops efficient computational methods for analyzing DNA sequencing data, including tools for genome assembly, alignment, clustering, forensics, and metagenomics. He received a B.S. in computer science from Loyola University Maryland in 2002. He first worked as a bioinformatics engineer at The Institute for Genomic Research (TIGR) and later received a Ph.D. in computer science from the University of Maryland in 2010. After graduate school he led a bioinformatics group at the National Bioforensics Analysis Center before joining NHGRI in 2015. In 2019, he was awarded tenure by the NIH and received the U.S. Presidential Early Career Award for Scientists and Engineers. On This Episode We Discuss: The recent announcement about the completion of the human genome sequence The name for this new human reference genome and what the letters stand for How T2T-CHM13 complements the previous human reference genome, GRCh38 Advantages of “long read” over “short read” DNA sequencing technologies Why telomeres and centromeres are hard to sequence Valuable information that we can learn from sequencing centromeres and telomeres  The future of variant classification Linking newly sequenced genes to genetic conditions or traits  If you’re interested in learning more about the newly completed human genome, check out this article and newsletter! Stay up to date with the latest advancements    Be sure to follow Dr. Phillippy, Dr. Miga, and National Human Genome Research Institute on Twitter to stay up to date on the latest human genome research news and announcements! 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