Copy number variants (CNVs) are typically a result of chromosomal duplications and deletions, making them a well-known form of genetic diversity and associated with several human disorders. Little is known about CNVs within humans and insight into CNV mechanisms would help scientists better understand, and potentially treat, many genome-based diseases. A particular form of CNV within humans is the inverted triplication of a gene without any chromosomal deletions. A similar phenomenon is observed at the SUL1 gene in Saccharomyces cerevisiae yeast cells, providing a model for studying such CNVs. The Brewer lab proposed a replication error mechanism responsible for this specific amplification described as Origin Dependent Inverted Replication Amplification (ODIRA). What impacts the initiation of this mechanism is unknown, but the proximity of SUL1 to the telomere raises the possibility that properties of the telomere may stimulate replication errors responsible for the triplication. I conducted a literature review analyzing 11 articles discussing various CNV mechanisms and telomeric influence on replication to establish their relationship. Through my review, I found a likely method to test whether the telomere does affect ODIRA. I propose utilizing a CRISPR-Cas9 based method to first circularize and eliminate the telomeres of the chromosome. Subsequently, the chromosome would be linearized at a location distant from the original telomere sites, effectively moving the entire SUL1 site away from potential telomeric influence. This research design allows for a comparison of SUL1 amplification events within the original and the restructured chromosomes and would reveal whether the telomeric region influences inverted SUL1 amplification formation. An observed reduction in rates of SUL1 amplification events with the reconstructed chromosomes would indicate telomeric influence on the amplification mechanism prompting further examinations within that genomic region. Attaining a greater understanding of this CNV mechanism yields information for future implications in genetic disease research.

There is growing use of technology-enabled contact tracing, the process of identifying potentially infected COVID-19 patients by notifying all recent contacts of an infected person. Governments, technology companies, and research groups alike have been working towards releasing smartphone apps, using wifi-connected devices, and distributing wearable technology to automatically track "close contacts" and identify prior contacts in the event an individual tests positive. However, there has been significant public discussion about the tensions between effective technology-based contact tracing and the privacy of individuals. To inform this discussion, we present the results of seven months of online surveys focused on contact tracing and privacy, each with 100 participants. Our first surveys were on April 1 and 3, before the first peak of the virus in the US, and we continued to conduct the surveys weekly for 10 weeks (through June), and then fortnightly through November, adding topical questions to reflect current discussions about contact tracing and COVID-19. Our results present the diversity of public opinion and can inform policy makers, technologists, researchers, and public health experts on whether and how to leverage technology to reduce the spread of COVID-19, while considering potential privacy concerns.