We cover topics such as clinical genetic screening and rare disease, testing variants in large-scale, disease risk, the intercept between variants and environmental contexts, computational predictors and so much more.
How can different molecular measurements enhance our understanding of membrane proteins and the genetic diseases caused by their dysfunction? In this episode, we explain how membrane proteins relay environmental information to cells, focusing on channels that gate ions and molecules.
Transcript and show notes can be found here: https://zenodo.org/records/18488800
How can we use genomic technologies to tackle blood diseases? In this episode, we explain the role of genetic variants in blood disorders and how genomics approaches, such as gene editing can help cure these diseases.
Transcript and show notes can be found here: https://zenodo.org/records/18249496
Who do you ask if you have a question about a gene? In this episode, we dive into the teams and scientists that are building an encyclopedia of knowledge about your genes.
Transcript and show notes can be found here: https://zenodo.org/records/15758283
We can predict the weather, but can we predict genetic diseases from your genome?
In this episode we explain the challenges and the promises of variant effect predictors (VEPs)
with experts Dr Debbie Marks and Dr Joe Marsh
Transcript and show notes can be found here: https://zenodo.org/records/15150254
In this bonus episode, we interview scientists at the 7th Annual Mutational Scanning Symposium which took place May 22-24, 2024 at the Broad Institute. Here we chat about the future of this field, funny lab experiences, and how people got interested in variant interpretation. (We want to thank Dr. Buchser, Dr. Cagiada, Dr. Deyell, Dr. Kinney, Mr. Smith, and everybody else at MSS2024 for their participation.)
Transcript and show notes can be found here: https://zenodo.org/records/14166380
How do your genes impact your drug response, and what about your metabolism? In this episode we explain genetic variation impacting drug response or pharmacogenomics and folate requirements in pregnancy. Variant effect maps are an amazing tool for understanding individual response to diseases and drugs, but normally they are made in one environment, how many environments are needed for us to implement individualized medicine?
Transcript and show notes can be found here: https://zenodo.org/records/13685455
In this episode we explain variation impacting melanoma predisposition, variant association tests and large-scale variant testing that measures the impact of mutations of melanoma risk.
Transcript and show notes can be found here: https://zenodo.org/records/13151644
All mutations compatible with life already exists, how do we interpret all of these variants? In this episode we explain the field of large-scale testing of variants and the Atlas of Variant Effects Alliance (AVE) alliance.
Transcript and show notes can be found here: https://zenodo.org/records/12823217
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This effort is led by VUSPod founder Alex Nguyen Ba, Assistant Professor at the University of Toronto, Canada
and co-chair of the Experimental Technologies and Standards Workstream
Much appreciation to our previous podcast team member: Evelina Tronina!