Patrick Short

PhD Student, Wellcome Trust PhD in Mathematical Genomics and Medicine


This person is a member of Sanger Institute Alumni.

Patrick's work focuses on analyzing the role of non-coding mutations in developmental disorders. Patrick is integrating a variety of diverse data sets including epigenetic marks, transcription factor binding predictions, and detailed clinical phenotypes with genome sequence data from the Deciphering Developmental Disorders (DDD) project under the supervision of Dr. Matt Hurles.

As a member of the Hurles’ group, Patrick’s work has focused on analysing the impact of non-coding mutations on patients with severe, undiagnosed developmental disorders. Many of the tools and analyses completed as a part of Patrick’s PhD work will be extended to the 100,000 Genomes project Rare Disease Clinical Interpretation Partnership.

Patrick completed his undergraduate education at the University of North Carolina at Chapel Hill (UNC) with a double-major in Applied Mathematics and Quantitative Biology with a minor in Chinese. While at UNC, Patrick completed his thesis work under Dr. Chuck Perou analysing the tumor microenvironment in mouse xenograft models, worked under Dr. Joseph DeSimone on drug delivery using nanoparticles to treat Multiple Sclerosis, and under Dr. Greg Forest on a mathematical model of the yeast mitotic spindle. Patrick worked as both an intern and on a short-term contract as a bioinformatician at Invitae in San Francisco working on variant effect prediction and biomedical text mining for improved variant curation.


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