Daniel Tabet on Impacts of Nearly All Possible Missense Variants in the FH Gene LDLR
Daniel Tabet, Postdoctoral Research Associate at Broad Institute of MIT and Harvard, shared on LinkedIn:
”Big news!
Last week, our new study measuring the functional impacts of nearly all possible (~17k) missense variants in the FH gene LDLR was published as a First Release in Science Magazine—check it out!
This work, many years in the making, came together thanks to the many incredible scientists I’ve had the privilege of working alongside.
I’m enormously grateful to my co-first author, Atina Cote, who drove the experimental work with amazing creativity, and of course to my PhD mentor, Fritz Roth, who guided us through this project with clarity and vision.
A big thank you as well to Megan Lancaster, who pulled off the analysis in All of Us; to the many cardiologists and members of the CardioVar team (Calum MacRae, Dan Roden, Robert Hegele, Joshua Knowles, Euan Ashley, and many others) for a wealth of thoughtful guidance; and to members of the Roth Lab (most especially Jochen Weile) who were instrumental to this project.
So proud of how this came together and humbled to be part of such an outstanding team!”
Read the full article in Science.
Article: The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR
Authors: Anna Axakova, Mafalda Bourbon, Jack M. P. Castelli, Victoria N. Parikh, Melina Claussnitzer, Atina G. Coté, Elizabeth T. Cirulli, Carmela Serio Carrero, Douglas M. Fowler, Iosifina Fotiadou, Michael Garton, Aanshi Gandhi, Andrew M. Glazer, Ranim Maaieh, Mohammad Majharul Islam, Kenneth Matreyek, Calum A. MacRae, Brett M. Kroncke, Da Kuang, Nishka Kishore, Joshua W. Knowles, Jennifer J. Knapp, Roujia Li, Megan C. Lancaster, Shahin Sowlati-Hashjin, Simon G. Pfisterer, Ashyad Rayhan, Dan M. Roden, Frederick P. Roth, Daniel Tabet, Olivia Taverniti, Jochen Weile, Euan A. Ashley, Robert A. Hegele
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