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edreznik.bsky.social

@edreznik.bsky.social
152 followers 34 following 11 posts
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edreznik.bsky.social @edreznik.bsky.social · 08/08/2025
For those of you hunting for your next position, please consider applying for a postdoctoral position in our lab. Our science is wild and exciting, and I promise to train and feed (yes, w/free food) you well. It doesn't hurt that we are on a publication hot streak.
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edreznik.bsky.social @edreznik.bsky.social · 18/12/2024
Those re-classified VUSs have significant clinical implications. Believe it or not: biallelical loss of (VUS or driver) KEAP1 is a predictive biomarker of inferior response in LUAD. Monoallelic loss (VUS or driver!) effectively WT. Zygosity itself matters.
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edreznik.bsky.social @edreznik.bsky.social · 18/12/2024
Selection for biallelic inactivation is also translationally useful for classifying variants of unknown significance. Look at all those VUSs in KEAP1 that are functional, as validated by a base editing screen with Francisco Sanchez-Rivera and Sam Gould
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edreznik.bsky.social @edreznik.bsky.social · 18/12/2024
Selection for biallelic inactivation is itself a highly useful metric for identifying cryptic driver mutations. APC is a rare driver in lung and prostate cancers
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edreznik.bsky.social @edreznik.bsky.social · 18/12/2024
Quantifying selective pressure for biallelic inactivation, we found that genes assorted in four classes based on the prevalence of selection across diseases. Class I universally selected, but many of our favorite genes (ARID1A, PIK3R1) in Class 2/3/4
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edreznik.bsky.social @edreznik.bsky.social · 18/12/2024
We provide a foundational but missing piece of data for the field at large: a resource of how often, and in what manner, genes are biallelically inactivated. Couldn't google it before, now you can. There's lots of heterogeneity across genes, and also within genes across diseases.
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edreznik.bsky.social @edreznik.bsky.social · 18/12/2024
The goal was to assess the selective pressure for, and functional consequences of, biallelic activation in TSGs across our prospective clinical sequencing cohort. Unexpectedly (and so therefore, expectedly), things were not as expected. Two hit hypothesis be damned!
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