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Now showing items 31-37 of 37
The Landscape and Consequences of Structural Variation in the Human Genome
(2022-09-01)
Structural variants (SVs), defined as any rearrangement of ≥50 DNA nucleotides, are a major source of human genetic diversity that determines the content, order, and orientation of the six billion nucleotides in every human ...
Technologies for assaying the spatial position of biomolecules in situ
(2022-01-05)
As cells receive and send complex signals over varying distances the spatial position of a cell is fundamental to defining its current and future identity. With the advance of single cell genomics technologies over the ...
Investigating the contribution of rare coding variants to human complex traits
(2022-05-11)
Exome association studies to date have generally been underpowered to systematically evaluate the phenotypic impact of very rare coding variants. We leveraged extensive haplotype sharing between 50K exome-sequenced UK ...
Peering into the dark matter of the \mbox{\emph{M. tuberculosis}} genome using long-read sequencing
(2023-06-01)
Tuberculosis (TB) is an infectious disease responsible for over 1 million deaths per year. TB primarily manifests as a pulmonary infection, but can also disseminate throughout the body. The causative agent of TB is the ...
Evolutionary and functional genomics of the origin of species in Phlox
(2023-05-09)
Speciation is the fundamental process by which biodiversity on earth is created and maintained. This process occurs through the evolution of reproductive trait differences between diverging populations until they become ...
Characterizing Regulatory Elements and Non-Coding Variants in the Human Genome
(2023-05-02)
Regulatory elements and the non-coding variants within them govern the spatiotemporal expression of genes as part of coordinated sets of networks, mediated by the combinatorial binding of transcription factors. The mechanisms ...
Functional genomic dissection of human brain development, degeneration, and dysfunction in pediatric neurogenetic disorders
(2023-09-13)
Human disease genetics has implicated hundreds of genes in brain development, maintenance, and function. Experimentally tractable animal models and culture systems have contributed greatly to understanding the function of ...