First, there was the Human Genome Project. Then, there was ENCODE. CSHL Professor Thomas Gingeras recently spoke with about the legacy of ENCODE. This week At the Lab, he talks about a new follow-up project called EN-TEx and its promise for the coming era of personalized medicine.
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Read the related story: Genome analysis just got personal
Transcript
Sam Diamond: You鈥檙e now At the Lab with 黑料吃瓜资源. I鈥檓 Sam Diamond, and this week At the Lab, 鈥淭he golden grail of genomics.鈥�
SD: The human reference genome is one of the greatest achievements of the modern scientific era. It pushed biology into the 21st century and revolutionized our understanding of genetics.
SD: But, at the end of the day, it鈥檚 just a reference鈥攐ne genomic profile standing in for all of us. In reality, each of our genomes contains about 4.5 million genetic variants. Today, thanks in part to scientists who were involved in the Human Genome Project, it鈥檚 no longer cost-prohibitive to sequence any given individual鈥檚 genome.
SD: One such scientist is CSHL Professor Thomas Gingeras. After the Human Genome Project wrapped up, Gingeras became involved in a follow-up project called ENCODE. Short for the Encyclopedia of DNA Elements, this genomic database opened a world of possibility. Gingeras was quick to dive in, with EN-TEx.
Thomas Gingeras: This project started at the end of phase 3 of ENCODE. It was clear that more and more, individual genome sequences were going to be used in place of the reference human genome sequence. And the question then becomes what are the differences that you would see using the reference genome versus taking individual genome sequences, and then doing the same kind of analysis?
SD: If ENCODE was the sequel to the Human Genome Project, EN-TEx is the third installment in the trilogy. Gingeras launched EN-TEx alongside Yale Professor Mark Gerstein. Together, they led a team in profiling 30 tissues from four donors with 24 different genomic tests per tissue. As a result, they were able to compile a catalog of more than one million genomic variants鈥攎aking it the most comprehensive per-genome resource of its kind.
SD: But they didn鈥檛 stop there. They also developed computational prediction models for evaluating each individual genetic variant in cases where collecting a tissue sample would be overly invasive, like if you鈥檙e looking into heart or brain conditions. How does Gingeras feel about all this?
TG: I think it鈥檚 quite exciting. I mean this [path leads us to a] golden grail that [scientists and physicians] have been wanting to do for a long time. And this is really the first attempt to provide a paradigm for getting to that goal.
SD: And it started right here At the Lab.
SD: Thanks again for joining us. If you like what you heard, please subscribe wherever you get your podcasts and visit us online at CSHL.edu. For 黑料吃瓜资源, I鈥檓 Sam Diamond, and I鈥檒l see you next time At the Lab.