“We've done a pretty good job at being able to acquire sequence information. That's, you know, some of the fastest advances in technology in the history of mankind. I'm told it's actually only beat by one other technology, which is the sort of the clarity of glass improved at a faster rate over a period of time.”
quote is from the automated transcript, cleaned for reading:
filler sounds and stutters are removed, nothing is rephrased. names can be misheard
(the analysis reads context, assessments check outside sources). how →
More from Carlos Araya
AssertionSupported
Interpreting novel genetic variants costs 100x to 1000x more than sequencing
“And interpreting each one of those under the current clinical practices costs 50 to a hundred dollars. So we're talking about a hundred to thousand-fold increase in the cost of interpretation relative to the cost of data acquisition.”
Carlos ArayaJan 2, 2019▶ 2:59a16z Podcast | Revisiting the Gene
AssertionSupported
Only 0.6% of disease-associated gene mutations have clinical interpretations
“If we look across all of the disease-associated genes that we know today, we only have clinical interpretations for roughly . Six percent of the possible mutations in them.”
Carlos ArayaJan 2, 2019▶ 3:52a16z Podcast | Revisiting the Gene
AssertionContradicted
Araya: Cancer gene tests find 95 unknown mutations per known mutation
“Those tests will basically find 95 mutations that they have absolutely no clue of what the effects of those mutations are in these important cancer-associated genes per each mutation that is known to cause disease.”
Carlos ArayaJan 2, 2019▶ 21:04a16z Podcast | When Will Genomics Live Up to the Hype?
AssertionNot checkable as stated
Araya: Existing genomic maps lack the functional data needed for applications
“Unfortunately the maps that we have today are really maps of function that just say where things that are, things like genes, biomolecules, where they are encoded in the genome, but it says really nothing about how they function and which parts of the genes do…”
Carlos ArayaJan 2, 2019▶ 7:27a16z Podcast | When Will Genomics Live Up to the Hype?
AssertionContradicted
Each sequenced genome contains about 100 novel variants in disease genes
“Although there are three million variants identified, There will be roughly a hundred variants that are novel variants in disease-associated genes.”
Carlos ArayaJan 2, 2019▶ 2:48a16z Podcast | Revisiting the Gene
Made with StarZero
Turn any episode into a week of clips.
This entire site, over 1,000 episodes transcribed, diarized, checked and made playable,
runs on the StarZero media pipeline. Drop in your own episode and the podcast clipper finds the
moments worth sharing, cuts them, captions them, and reframes them for every feed.
We use essential cookies to make the site work. With your permission we
also use analytics cookies (Google Analytics and Mixpanel) to understand
usage and improve StarZero. See our Cookie Policy.