can we sequence the unsequence-able?

An overarching theme of our research is to investigate previously ignored or overlooked regions of the genome inaccessible to standard methods. Genes and mutations falling within complex portions of the human genome represent potential drivers of human traits and disease. We use single-molecule sequencing to assay these difficult variants. The lab actively contributes to the Telomere-to-Telomere (T2T) Consortium with a particular focus on segmental duplications and, through collaborations, centromeres.

In particular, we are interested in the role of gene expansions and structural variation in primates, including humans, chimpanzees, and rhesus, and their impacts on gene regulation and chromatin organization. This project is funded via an NSF CAREER Award.

Selected related papers

• The complete sequence of a human genome. Science (2022)

• A complete reference genome improves analysis of human genetic variation. Science (2022)

• Complete genomic and epigenetic maps of human centromeres. Science (2022)

• Diverse molecular mechanisms contribute to differential expression of human duplicated genes. Mol Bio Evo (2021)

• Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution. Genome Research (2020)

• Identification of Structural Variation in Chimpanzees Using Optical Mapping and Nanopore Sequencing. Genes (2020)

• Palindromic GOLGA8 core duplicons promote 15q13.3 microdeletion and evolutionary instability. Nat Genet (2014)

image courtesy of https://en.wikipedia.org/wiki/Dark_matter