Now showing items 1-6 of 6
Modeling Rare Protein-Coding Variation to Identify Mutation-Intolerant Genes With Application to Disease
Sequencing exomes—the 1% of the genome that codes for proteins—has increased the rate at which the genetic basis of a patient’s disease is determined. Unfortunately, when a patient does not carry a well-established pathogenic ...
Molecular Patterns and Signatures of Longevity
Since their divergence from a common ancestor some 200 million years ago, mammals have undergone significant diversification in physiology, morphology, habitat, size, and longevity. The maximum lifespan of mammalian species ...
Genetic and genomic approaches to understand size and proportion
The establishment of proper proportions during development is essential for the final form and function of an organism. While much is known concerning the regulation of proliferation and differentiation, how the relative ...
Elucidating CTCF-Mediated Regulation of V(D)J Recombination at the Immunoglobulin Heavy Chain Locus
Immunoglobulin heavy (IgH) and light (IgL) chains associate to form the B cell receptor (BCR), which is secreted as an antibody upon B cell activation. Each B cell generates and expresses a unique set of IgH and IgL variable ...
Computational and Statistical Methods for Characterizing Single-Cell Heterogeneity
The emergence of single-cell technologies has highlighted the potential to discover novel cellular subpopulations and states within heterogeneous populations. Such technologies are achieving increasingly higher-throughput, ...
Developing Computational Methods for Analyzing Metabolomics Data and Applications to Study Obesity
Metabolomics is a powerful approach for discovering biomarkers and for characterizing the biochemical consequences of genetic variation. This dissertation consists of several projects that focused on developing computational ...