I use long- and short-read sequencing data to understand the evolutionary impacts of structural variants and the diversity of gene expression and splicing.
The cells in our bodies accumulate somatic mutations throughout our lives. Some mutations cause overproliferation and can eventually lead to cancer. I developed a model of these evolutionary dynamics in the blood, built with the software SLiM, that incorporates telomere shortening as a cell death mechanism.
When the human genome was first sequenced in 2001, 8% of its most complex regions remained incomplete for the next two decades. I worked with the Telomere-to-Telomere Consortium, which assembled the first ever complete human genome in 2021, to assess how this genome can improve genetics research.
Large genomic rearrangements, called structural variants, are understudied but can have dramatic functional impacts. I used a hybrid genotyping approach to discover these variants on a population-wide scale, and found evidence of a Neanderthal structural variant under selection in southeast Asia.
Recent research on Neanderthals and Denisovans has used gene expression to understand how archaic hominins may have differed from modern humans. In this review, I described the creative methods used to infer archaic hominin gene expression from DNA sequencing data.
Oral Presentations
2022
JHU CMDB Program Retreat
Local adaptation and archaic introgression at human structural variant loci
2022
T2T-F2F
Human genetic diversity within challenging regions of the genome
2022
Advances in Genome Biology and Technology
A complete reference genome improves analysis of human genetic variation
2021
eLife Symposium: Evolutionary Medicine
Local adaptation and archaic introgression at human structural variant loci
2021
Biology of Genomes, Cold Spring Harbor Laboratory
Local adaptation and archaic introgression at human structural variant loci
2020
American Society of Human Genetics
The role of structural variation in human local adaptation
2020
Society for Molecular Biology & Evolution | Cancelled due to COVID-19 The role of structural variation in human local adaptation
Fellowships and Awards
2024
Stephen and Carolyn Oppenheimer Thesis Award, JHU Department of Biology
Funded by the JHU Center for Teaching Excellence & Innovation, I developed open-source teaching modules for an undergraduate course on human genetic variation.
An R Shiny app for browsing LD between human structural variants and SNPs, using data from my SV genotyping paper. (There's a lot of data, so it might take a minute to load!)
Résumé and CV
Résumé
CV
If you'd like to contact me, feel free to reach out via email or any other platform!