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Ben Weisburd

Publications

Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. [published correction appears in Nature. 2021 Feb;590(7846):E53] [published correction appears in Nature. 2021 Sep;597(7874):E3-E4]. Nature. 2020;581(7809):434-443. doi:10.1038/s41586-020-2308-7

Stern-Ginossar N, Weisburd B, Michalski A, et al. Decoding human cytomegalovirus. Science. 2012;338(6110):1088-1093. doi:10.1126/science.1227919

 

Ben Weisburd, B.S.

Ben Weisburd is a computational scientist I at the Broad Institute of MIT and Harvard, within the gnomAD methods team led by Grace Tiao. The team is part of the Translational Genomics Group (TGG) which is within Broad’s Program in Medical and Population Genetics. Weisburd works on identifying mutations that cause rare genetic diseases, focusing on regions of the genome where identifying mutations requires specialized methods. One example of this work is a tool that allows the diagnosis of spinal muscular atrophy from exome or genome sequencing data. Applying this tool to thousands of neuromuscular disease cases in rare disease cohorts, the team was able to help provide diagnoses to multiple individuals.

Weisburd joined TGG around 2019 but has worked in other areas of the Broad since 2010. He previously worked as a computational scientist at Novartis and UCSF and as a software engineer before that. Weisburd has a B.S. in computer science from Brandeis University.

 

November 2022