Last episode 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!

Stay tuned for the next new episode of DNA Today on May 13, 2022 where we’ll be joined by Khalida Liaquat and Ariana Lichtenstein of Blueprint Genetics to discuss the My Retina Tracker Program! New episodes are released on Fridays. In the meantime, you can binge over 180 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.

Are you seeking a career with purpose in the healthcare space? We’d recommend checking out Worldwide Clinical Trials, a contract research organization that partners with pharmaceutical and biotechnology companies to advance development of new medicines. Apply your passion at Worldwide where they take an entrepreneurial approach backed by scientific expertise to help bring treatment options to patients. With a global team of 3,000 experts, you will be inspired by bright thinkers, dreamers and doers who innovate and invent for a brighter tomorrow. Perks include unlimited flexible paid time off, limited travel requirements, and the ability to work remotely. Bring your talents and passion and join the team at worldwide.com.

PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com.

Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June Sarah Lawrence is hosting this series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on June 1st! You can sign up at SLC.edu/DNAtoday to register to level up your resume for applications in the fall.