Weaving the visual arts into a science curriculum can both help develop scientific imagination and engage non-scientists.

As of November 2016, well over one‐third of the more than 170,000 unique variation records in ClinVar are of unknown importance; these variants are either (a) characterized as variants of unknown significance (VUS), (b) have no clinical significance provided, or (c) list conflicting reports of clinical significance. The vast number of ambiguous entries in ClinVar offer an opportunity for researchers seeking new projects in the area of in vitro protein characterization; not only are there many variants to choose from, the size of the dataset provides potential to select targets that are a good fit for the capabilities of the lab. The opportunity to preselect medically relevant projects with a higher degree of success is especially intriguing for researchers at undergraduate institutions, who do not have the resources of larger labs.We describe the development of a selection algorithm for choosing an in vitro protein characterization project that is amenable to undergraduate research. Our approach combines information from ClinVar and the Protein Databank to select enzymes with published crystal structures of the human protein, that have been previously expressed and purified in e. coli, and that feature at least one missense VUS entry in ClinVar.We also describe progress on the characterization of four variants of unknown significance in Glucose‐6‐Phosphate Dehydrogenase, an enzyme associated with hemolytic anemia.Support or Funding InformationSupport provided by DePauw University and the Howard Burkett Scholar Fund.

The non‐profit Rare Genomics Institute (RG) helps provide rare disease patients with access to cutting‐edge molecular biotechnology and analytical expertise with the potential to uncover new directions for research, treatment, and support. As volunteer analysts for RG, we analyzed the exome sequence data of patients with as‐yet undiagnosed diseases with a suspected underlying genetic cause. Data analysis is performed with Omicia Opal, a web‐based genome interpretation and reporting software platform integrating the machine learning algorithms VAAST and Phevor. We summarize our use of the Omicia Opal platform in three cases that represent the range of outcomes that can result from exome analysis; in one case we identified a likely pathogenic variant in the RDH12, associated with Leber's congenital amourosis; in a second case we identified a possibly pathogenic variant in IFT140, associated with Jeune syndrome; and in a third case we identified variants of uncertain significance in genes associated with Sotos and Weaver syndrome. We also outline the additional work RG analysts do to prepare an informative report for the family and their physician, and to connect the family and clinicians to experts who may be able to move their case forward.While definitive answers are still uncommon in exome analysis, the research of RG analysts can provide new leads in a difficult case. Moreover, undergraduate students can make meaningful contributions to patient‐centered rare disease research provided that expert guidance and oversight are in place.Support or Funding InformationFunding provided by DePauw University